Physiopedia DS

Introduction
Down Syndrome (DS) is a chromosomal alteration. Chromosomes are structures found in

every cell of the body that contain genetic material and are responsible for determining
anything ranging from your eye colour to your height. Typically, each cell has 23 pairs of
chromosomes, with half coming from each parent [1]. Down syndrome, however, occurs
when chromosome 21 has a full or partial extra copy in some, or all, of that individual’s cells.
This triple copy is sometimes called trisomy 21 [2]. The altered number of chromosomes
leads to common physical features in the DS population, such as:
The following video “Ted Talk” presented by Karen Gaffney, a person with Down Syndrome,
explores numerous contemporary thoughts surrounding DS and challenges society's
preconceptions of people with DS.
TEDx Talks
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I have one more chromosome than you. So what? | Karen Gaffney | TEDxPortland
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Epidemiology
DS is the most commonly occurring chromosomal variance noted worldwide [4], with 1 in
700 births resulting in a child with DS [5]. In the UK alone, there are over 41,000 people
living with Down Syndrome, and 750 new people born with DS each year [6]. Birth rates are
expected to stay the same, but the total population of persons with DS is expected to rise in
the coming years. This is mainly due to medical advancements which have increased life
expectancy from age 9 in 1929, to 60 years of age today [7]. With this increase in the
number and age of this population, there will be a larger demand on health services, such as
physiotherapy, and increased challenges for families to overcome.
Additionally, persons with DS already report having problems gaining access to health care
[8] with the main barrier being a lack of knowledge about available services [9].
Furthermore, parents of persons with DS also commonly express feeling stressed and
uncertain about surrounding care of their child and state that they desire more help from
physical activity specialists regarding both education and available interventions [10].
Signs and Symptoms
Though there are many similarities across the DS population, there is great variation in the
syndrome. There are three types of DS, each with its own set of challenges and individual
variation. The three types of DS are Trisomy 21 (95%), Translocation (3%-4%) and Mosaicism
(1%)[11]. Further information on the differences between categories can be found here[12].
Whichever the type, persons with DS typically have poorer overall health at a young age and
exhibit a greater loss of health, mobility, and increased secondary complications as they age
when compared to their non-DS counterparts [13][14]. As a result, persons with DS and
their families frequently access a range of health services, including physiotherapy. Although
DS itself is not a medical condition but is simply a common variation in the human form,
there are many medical conditions that people with DS frequently experience. These
include:
Learning difficulties
Poor cardiac health
Thyroid dysfunction
Diabetes
Obesity
Digestive problems
Low bone density
Hearing and Vision loss
Dementia and Alzheimer’s disease
Depression
Leukaemia [15][16][17]
Developmental Milestones
From the time a child is born, they are growing and learning. Each person develops at a
different pace. However, some skills are expected to be mastered by a specific age. These
are called developmental milestones. Milestones can be physical achievements, language-
related, or social accomplishments. As physiotherapists, we typically focus on motor skills
[17].
The ability to move is essential to human life and development. All children begin
developing a wide range of movement skills, or motor skills, starting at birth. These motor
skills are wide-ranging and often broken down into the sub-sections below:
Motor skills are key for physical function, but also impact cognitive development.
Reaching and grasping allows a child to explore the characteristics of objects in his or her
physical world.
Sitting promotes the use of arms and hands for playing.
Walking allows a child to explore the world more effectively than crawling.
Independent movement increases opportunities for social interaction which promotes
language learning [4][18].
Developmental Milestones in Children with Down Syndrome
Persons with DS will generally achieve all the same basic motor skills necessary for everyday
living and personal independence, however, it may be at a later age and with less
refinement compared to those without DS [19]. Some adjusted milestones for DS are
available below:
For more in-depth developmental milestone charts, please see here[21], a more in-depth
description of milestones and a form for recording and tracking progress can be found
here[18]. While these milestones are generally agreed upon, studies targeting
developmental milestones tend to only examine a small number of people. This makes the
information less representative of the entire DS population. Researchers also commonly
compare people with DS to their non-DS counterparts of the same age. This is an invalid
comparison, and it would be more correct to compare children with DS to non-DS
individuals of the same mental age. Despite these limitations, the above-listed milestones
are widely used and considered accurate [22].
Balance and Down Syndrome
It is common for children with DS to be delayed in reaching common milestones such as
sitting independently, standing and walking. One of the contributing factors to the delay of
these specific milestones is poor balance. It is well known that persons with DS are often
considered floppy, clumsy, uncoordinated and have awkward movement patterns due to
balance issues. These balance challenges often follow the child into the teen years and
sometimes into adulthood [23]. While impaired balance is difficult on its own, it may also
impact the development of other motor abilities and cognitive development. Being able to
maintain balance allows for exploration, social interaction and overall freedom [24].
Factors Contributing to Poor Balance
Ligament Laxity: Persons with DS have elastic/loose joints, allowing for a large range of
movement. Although this doesn't sound like a problem it can lead to joints being less stable,
difficult to control and may affect balance.
Low Muscle Tone: A common symptom of DS is a ‘floppy’ appearance of limbs, with little
activity in the muscles at rest, impacting stationary balance. 'Floppiness' does improve over
time but can influence balance greatly in the early years.
Slow Reaction Times/Speed of Movement: Persons with DS often are slower to react and
move than their non-DS peers. This means that even if the person feels unsteady, it will take
a longer time to react to this feeling, and once it is understood, the corrective movement
will also be delayed. Both of these aspects make balance challenging.
Differences in Brain Size: Persons with DS typically have smaller cerebellums, which is a part
of the brain that contributes to the control of balance. The small size impacts its function,
limiting balance reflexes, and causing blurry vision when completing tasks at high speed.
Other parts of the brain are also smaller, creating issues with voluntary activities, walking
technique and coordination.
Poor Postural Control: Typically the posture of a person with DS is slouched - hunched over,
with a rounded neck. This prevents the head and body from sitting over the pelvis. Posture
is impacted by inaccurate messages being sent to the brain from the body’s sensory system.
This leaves people with DS less capable of adapting or making anticipatory adjustments to
changing environments [24][25][26].
Strength and Down Syndrome
Another contributing factor to delayed milestones and common challenge with DS is
decreased strength.
During childhood, children with DS do not experience the same amount of muscle growth or
strength increase as their peers without DS [27]. This is in part due to the decreased amount
of physical activity experienced by people with DS but is also caused by unknown genetic
reasons that research is still investigating. Regardless of the reason, persons with DS
consistently fall behind in strength categories when compared to their peers without DS,
individuals with DS typically exhibiting 40-50% less strength [28].
Factors Affecting Strength
Decreased strength can have a large impact on the lives of persons with DS. Not only can it
lead to complication of activities of daily living, making walking up the stairs, getting out of a
seat and other seemingly simple tasks, major obstacles, but it can also lead to other
problems. Some of these are listed below:
Increased wear and tear on joints

Contributes to reduced balance due to weakness of the stability muscles
Higher risk of falls
Elevated level of fatigue
Delayed developmental milestones
Increased risk of osteoporosis [30]
Reduced Levels of Physical Activity
The research on physical activity levels in people with Down syndrome is conflicting.
However, most research does find people with Down syndrome live highly sedentary lives in
which they do not achieve the recommended guidelines for physical activity levels [31][32].
The daily recommended levels of physical activity for children is at least 60 minutes of
moderate to vigorous-intensity activity, and for adults the recommended levels is at least
150 minutes of moderate aerobic activity each week, including at least two strength session
in the week [33][34]. Although people with Down syndrome may have decreased capacity
for exercise compared to their peers without DS, the guidelines clearly state that children
with DS should still meet the recommended guidelines or do as much physical activity as
they can manage [35].
Furthermore, as people with DS age, their physical activity levels fall even further behind
their peers without DS [31][36][37]. This trend demonstrates that reduced activity levels are
a lifelong issue for children with DS that must be addressed.
Barriers to Physical Activity
Most individuals with Down’s Syndrome have to overcome social and environmental
barriers to access physical activity. People with DS face many obstacles with the main
barriers being lack of money, transportation, access to programs and support from family
and carers. It is a common thought that people with DS are too fragile to participate in
exercise. [38].
Poor strength and balance are limitations to both cardiovascular and resistance exercise,
however, this needs to be addressed as many individuals with DS are now being classed as
obese. Individuals with Down syndrome have been found to have substantially higher rates
of obesity compared to the general population [39]. Often occurring early on in childhood,
obesity was found to remain stable from childhood into adulthood, with slight increases
after puberty [40]. Obesity is now recognized as a major health risk for people with Down
syndrome [41].
The causes of obesity in the Down syndrome population can be divided into physiological
causes and behavioural causes. Physiological causes may include conditions such as
hypothyroidism, decreased metabolic rate, increased leptin levels (a hormone which helps
regulate hunger), short stature and low levels of lean body mass [42]. Behavioural
tendencies such as negative thinking and inattention behaviour may become barriers that
prevent vital dietary and lifestyle changes to occur [42].
Physical inactivity also increases the chance for the development of other health problems
such as diabetes, increased blood pressure, dyslipidaemia, early markers of cardiovascular
disease, musculoskeletal disorders, breathing difficulties with worsening of sleep apnea and
psychological effects including reduced quality of life [33][42].
Aerobic fitness in both youth and adults with Down syndrome is reduced compared to their
peers without DS [43][44]. Studies find that adolescents and young adults with DS have
comparable aerobic fitness to non-DS older adults (60years +) with heart disease [44]. They
also have lessened aerobic abilities, reduced muscular strength and reduced bone mineral
density levels by 26% compared to their peers without DS [45].
Benefits of Physical Activity
Overall, strong evidence suggests that regular physical activity can lead to numerous health
benefits. Participating in physical activity has a positive impact on people’s health. Benefits
include improved cardiovascular, metabolic, musculoskeletal and psychosocial health
profiles in people with and without DS [46].
The fact that many children with DS reach Developmental Milestones later than their peers
may be a contributing factor to lower levels of physical activity during infancy.[47] Onset of
independent walking in children with Down syndrome occurs roughly 1 year later in
comparison to children with typical development [48]. Earlier walking onset has been
observed in infants with Down syndrome who performed greater amounts of high-intensity
activity at 1 year of age [49]. Changes to physical activity levels in infants with Down
syndrome has been suggested to encourage motor development, validating the importance
of early physiotherapy intervention [47].
Some health benefits of increased physical activity levels in persons with DS are:
Decreased body fat percentage

Decreased body weight
Improved cardiovascular fitness
Improved muscle strength
Decreased depression
Reduced risk of osteoporosis[51][52][53][54]
In addition to the health benefits listed above, physical activity is important for people with
DS because it:
Promotes the development of physical and social skills.
Establishes a regular routine around being physically active, leading to better habits in the
future.
Increases life satisfaction.
Prevents secondary conditions associated with DS including diabetes, osteoporosis and
dementia [55].
From the evidence, it is clear that physical activity is integral to a person with Down
syndrome’s health, fitness and wellbeing [35]. If you feel unsure about what kind of
activities to encourage your child to take part in, or would like to know what kind of physical
activity groups are out there, then hopefully this next section will provide you with some
useful information!
Sensation
In addition to the other challenges facing people with DS, they can also experience sensory
issues [56]. Being unable to process sensory information from the environment can be both
frustrating and challenging, often leading to inappropriate behaviour as a response [57]. As
humans, we use sensory information to gain experience, learn and interact with the world.
When sensory feedback is limited, it can impact progress in other areas such as motor
development [56]. Sensory difficulties can impact a child’s behaviour and the way they
interact with people and objects around them [57].
What is Sensory Integration?

Information from the environment is processed by our brain and can be interpreted by
senses such as sound, touch and movement. The brain then organises this information
before directing the body’s response; this is known as sensory integration. Typically, we are
able to manage all this continuous processing without really having to think about it. People
with Down syndrome aren’t always as able to sort through information, and they can quickly
become overloaded and sensitive to stimuli. This is called being hyperresponsive and occurs
when the brain ‘short-circuits’. Alternatively, the person could become immune to stimuli,
or hyporesponsive, which occurs where the brain fails to register input [59]. It’s important
to understand that people can’t always be neatly categorised into one or the other and
crossover does occur.
Hyperresponsive Behaviour
Most people enjoy a light touch from a loved one, whether a pat on the hand or a hair ruffle
and a positive response is usually expected, particularly from children. However, some
people with Down syndrome can register this as dangerous and may scream or pull away.
This may seem like an over-reaction to me or you perhaps but is an appropriate response
according to the brain of an individual with DS. You could compare it to us walking down a
scary street at night where our bodies would be on full alert. If we spent every day in this
heightened state of awareness, exploring the environment may become difficult and our
reaction to certain scenarios may changes. Without this exploration, it becomes challenging
to learn new skills [59].
Hyporesponsive Behaviour
An individual whose brain fails to register input usually bombards the sensory system,
typically by constantly touching objects. Pain is not felt in a ‘typical’ manner, by crying or
touching the site of pain. Instead, the person may bump into the same object over and over.
This may also lead to falling repeatedly. If we were in a pitch-black room and told to find a
way out, we would call on our other senses – touch and sound for example. People who are
hyposensitive are continuously using their brain in this intense way in order to make sense
of their environment [59].
Mental Health and Emotional Wellbeing
It is not uncommon for individuals with Down syndrome to experience challenges with
emotional behaviours and mental health. Children with Down syndrome may have
difficulties with communication skills, problem-solving abilities, inattentiveness and
hyperactive behaviours. Adolescents may be susceptible to social withdrawal, reduced
coping skills, depression, anxiety, obsessive-compulsive behaviours and sleep difficulties.
Adults with DS may have similar experiences as adolescents, with further complications of
dementia later in life [61]. Listed below are different mental health conditions.
Depression
Adolescents and adults, and sometimes children with Down syndrome may display
depressive symptoms such as sadness, severe social withdrawal, or avoidance of activities
that were previously enjoyable. These behaviours tend to be associated with an event that
may seem like a normal life occurrence but is perceived as great stress to someone with
Down syndrome. Such events may include the loss of a household pet, a friend or a sibling
who moves away, an illness in the family, or the extended absence of a teacher. Individuals
with Down syndrome can be particularly sensitive to changes in their environment and if
they do not cope appropriately, this may cause significant psychological distress [62].
Challenges may arise including withdrawal from social and physical activities, which may
prolong important development in these areas and impact the quality of life. There are a
variety of treatment options for depression, including counselling, identifying coping
methods for stressful events, medications, and participation in exercise and enjoyable
activities [63].
Anxiety
Anxiety in a person with Down syndrome may be displayed by behaviours such as
restlessness, panic, fidgeting or excessive worrying. Anxiety is often stimulated by the
transition to a new or unfamiliar situation or environment. For example, going from home to
a different environment such as school, a disruption of a daily routine, or anticipation of a
new event [64]. This may prove to be a challenge when introducing new activities to
individuals with DS so it is important to plan ahead and incorporate new activities gradually
into the routine.
Routinised and Compulsive-like Behaviours
Children and adults with Down syndrome have a tendency to follow familiar routines that
may appear to be repetitive, compulsive or ritualistic [4]. They may require situations to be
‘just right’ or want to participate in the same activities over and over. These behaviours are
often performed to avoid feelings of anxiety [65]. It is important to introduce physical and
social activities early in life so they become part of an everyday routine. This can have a
positive impact on achieving developmental milestones.
Hyperactive and Inattentive Behaviours
Children with Down syndrome may appear to be easily distracted, impulsive, frequently
restless and they may have difficulty maintaining attention on tasks. This behaviour may
persist into adulthood, however, it tends to diminish with age [66]. It often causes a barrier
to participation in physical activities due to non-compliance and creates the need for
increased supervision [38]. There are medications which are said to reduce these
behaviours, however, they often trigger adverse side effects. It may be beneficial to channel
hyperactive energy into participating in activities that the child enjoys, or encourage an
activity that provides a calming effect.
Alzheimer's
Another challenge the brain can face for those with Down syndrome is Alzheimer’s which is
the most common cause of dementia. These two terms, Dementia and Alzheimer’s, are
commonly used interchangeably but are in fact different diseases. Dementia typically
involves symptoms including memory loss, difficulties with thinking, problem-solving and/or
language and these occur due to damage to the brain such as that caused by Alzheimer’s.
Down syndrome is not the same as Alzheimer’s nor does it guarantee the development of
Alzheimer’s! Current estimates state that roughly 50% of people with Down syndrome will
develop dementia due to Alzheimer’s as they age and symptoms only begin to show in the
individuals 50s or 60s [67].
There has been a lot of research on the link between Down syndrome and Alzheimer’s.
Alzheimer’s is a physical disease of the brain caused by a build-up of a protein which forms
plaques or tangles. As mentioned earlier people with DS have an extra copy of chromosome
21 which carries a certain gene. This gene produces a protein called amyloid precursor
protein (APP) which leads to the aforementioned plaques/tangles in many persons with DS
[62]. These plaques/tangles can cause a loss of connections between brain cells, leading to a
loss in brain tissue. People with Alzheimer’s also have reduced amounts of certain chemicals
in their brain which help to transmit signals in the brain, leading to less effective signal
transmitting.
Some common symptoms of Alzheimer’s:
Short-term memory loss
Reduced interest in activities
Social withdrawal
Confusion and disorientation
Increase in wandering
Increased problems in unfamiliar places
Physiotherapy Management
Physiotherapy can play a major role in the management of children with DS; through
movement and exercise, manual therapy, and education physiotherapists can empower
people to take charge of their own health and participate in their treatment. The aim of
treatment is to assist people to live as independently as possible [68].
Not everyone with DS requires physiotherapy and as with most things in life, it depends on
the individual's needs. Although there is no standard treatment plan, effective
physiotherapy management of Down syndrome typically involves a combination of sensory
integration therapy, neurodevelopment treatment, perceptual-motor therapy and
traditional strength and conditioning programs [69].
Traditional therapies for conditions involving difficulties with movements can be repetitive
and lack variety [70]. People with Down syndrome often have a reduced attention span,
which makes engaging in any therapy challenging, especially when dealing with children
[71]. By consistently exposing children to different textures, sounds, environments and
movements, physiotherapists can make treatment more interesting and inclusive.
Physiotherapists are commonly consulted to educate individuals and their families as well as
provide input on health promotion and long-term condition management [72]. As many
treatments often require on-going maintenance, physiotherapists should encourage family
members to support and implement home treatment plans in an attempt to encourage self-
management [73]. Due to the variation in all people and across Down syndrome cases, no
one physiotherapy intervention can be prescribed. Interventions are based on the
individual’s physical and intellectual needs, as well as his or her personal strengths and
limitations [16]. Some of the common issues that physiotherapists will address are:
Delayed developmental milestones
Balance issues
Decreased strength
Reduced levels of physical activity
Issues with sensation
Reduced mental health and emotional well-being
High chance of Alzheimer’s disease
Choosing the right intervention based on the problems experienced and the individual child
is essential to improve the outcome of treatment. Below are some examples of effective
interventions for children with Down syndrome.
Tummy Time
Infancy is the ideal time to start encouraging movement and motor skills. These skills
promote interaction between the child and the environment which will improve cognition,
language, social skills and independence. Due to the already high risk of developmental
delays in infants with DS, this is an especially important area of focus [74].
Tummy Time is a simple physiotherapeutic intervention used for infants with DS. Parents
are encouraged to position the child on his tummy in various positions for extended periods
of time. Lying in this position has been found to be extremely beneficial, as it affords infants
the chance to develop strength, balance and motor skills against gravity. When this
technique is practiced, the infant often achieves motor milestones, such as rolling, sitting
and crawling, and improved balance earlier in life. Infants who do not experience enough
time on their belly have decreased ability to support their own head at 2 months of age and
have further delayed developmental milestones [75]. Some of the possible positions are
pictured and described below:
Tummy Time in children without DS has been proven to be a positive contributor to

mastering developmental milestones. This intervention has only recently been investigated
specifically for children with DS. There are only a few research studies available, but results
have been consistently positive. Tummy time should be started as early as possible in
infants with DS. When a child with DS begins this intervention within the first ten weeks of
life, levels of motor development similar to that of half the children without DS are
experienced. This technique is easily started at birth and can be performed by parents or
caregivers. It is the foundation to motor skill mastery in the first year of life and increases
balance, strength and skill attainment as the child grows [74].
Further information on tummy time positions is available here[77].
Neurodevelopmental Treatment (NDT)
NDT is an approach which focuses on the quality of movement and coordination rather than
individual muscle group function [78]. Therefore, NDT is most effective as an early
intervention, before poor compensatory patterns of movement become habitual. As
physiotherapists, we can use our hands both to prevent abnormal movement patterns and
to facilitate more natural ones. This hands-on approach is achieved by the physiotherapist
having several ‘key points of control’, including the head, shoulders, trunk and/or pelvis to
guide and alter movement [78]. NDT is usually appropriate for people with DS as they often
present with limbs and muscles that may not be as well-controlled and may be floppier than
desired [70].
Although NDT will be different for every individual, a video with some examples of what a
more hands-on therapy approach can look like is seen below.
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Sensory Integration Therapy (SIT)
People with Down syndrome often struggle to process information from the environment
including things like smell, touch and movement. This is known as sensory integration
dysfunction. SIT aims to change how the brain interprets the environment through the very
aspects in which they struggle, touch, movement and balance [79]. The video below
explains these systems and why they are important in everyday life!
Pathways
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Importance of Sensory Integration
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SIT involves a wide range of activities and equipment such as weighted vests, brushes,
swings, balls, homemade obstacle courses [80] and even game consoles such as the Wii[70].
These items are all used to provide some form of sensory stimulation. This interactive
therapy has been shown to increase focus, reduce disruptive behaviours and improve high
functioning tasks such as reading, writing and speech [79].
If SIT is identified as a modality it may be beneficial to work alongside an occupational
therapist (OT) . OTs are concerned with how people manage to do meaningful activities and
can help by providing equipment which ultimately aims to promote independence.
Traditionally seen as more of an ‘OT thing’ understanding of how sensory-based issues can
impact motor performance can enhance our practice as physiotherapists, particularly when
working with children. There is now a physiotherapy special interest group which offers peer
support and shared learning for physiotherapists wanting to gain more experience in, and to
promote the role of physiotherapy in SIT [81].
Perceptual-Motor Therapy (PMT)
PMT incorporates activities which help to explore balance, coordination and body
awareness and is not skills-based. So, rather than being taught a certain skill, individuals are
provided with an environment in which to explore and determine what their bodies can do
[82]. See video below:
sanctuaryptps
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Perceptual Motor Program
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Two-Wheeled Bicycle Training
Two-Wheeled Bicycle riding helps to improve physical activity, is enjoyable and can lead to
increased socialization. The skill of bicycle riding can be learned at a young age or later in life
[31]. Studies have shown that people with Down Syndrome often have reduced physical
activity levels [47], along with reduced sports participation. Assisted two-wheeled bicycle
riding has been shown to reduce sedentary time and increase time participating in
moderate to vigorous activity [51]. As well, this skill has the potential to increase
independence and autonomy, whilst helping to diminish their fears surrounding falling from
a bike and getting hurt [51]. If you are searching for an activity for your family to do
together, that has the potential to improve your child’s quality of life [83], then assisted
two-wheeled bicycle riding could be a great activity to try out!
Therapeutic Horseback Riding (Hippotherapy)
This is an activity that promotes friendship, fun and progresses confidence with movement
skills. Therapeutic horseback riding is a strategy that uses a horse’s motion to promote the
training of muscle and balance skills required for everyday life activities [84]. While horse
riding, the child will experience movements of the trunk, pelvis and hips, similar to those
that would take place during normal walking [85]. Adapting to the horse’s rhythmic
movements in different directions further enhances muscle contraction, postural control,
weight shifting, and planning of movement patterns [86].
The overall benefits of therapeutic horseback riding include advances in balance, muscle
strength and coordination, trunk control, postural stability, and weight-bearing abilities [84].
Learning new movement strategies through horse riding can also progress skills such as
walking, running and jumping [86]. For more information, please see the video below
DigbyBrownSolicitors
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About The Brae - Riding for the Disabled
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Treadmill Training
"The key is if we can get them to walk earlier and better then they can explore their
environment earlier and when you start to explore, you learn about the world around you"
[87]
Infants with typical development learn to walk independently at about 12 months of age.
Babies with Down syndrome typically learn to take independent steps at 24-28 months.
These are averages, and averages and developmental milestones often feel like a ticking
clock to race against. It is important to reassure parents not to worry if their child is late
reaching milestones, and reinforce that each person develops at his or her own pace.
Helping children to walk is of importance as it allows interaction with the world and it is
often a stepping stone to the development of other social, motor and cognitive skills.
Walking allows children to engage in other enjoyable tasks, and the endurance achieved in
doing so allows them to be active for longer periods of time! More skilled walking is less
tiring for children and could allow for more energy to take on the rest of the day.
Research carried out in recent years has suggested that regular walking on a treadmill can
significantly improve standing and walking ability in children with DS. Put simply, different
research groups have used treadmill training, with varying degrees of speed, time length
and frequency and concluded that it is a beneficial intervention for development as well as
physical activity [87].
Have a look at the children’s development in the video below
UM News Service
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Treadmill training helps babies with Down syndrome walk months earlier
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What’s great about treadmill training is that physiotherapists can prescribe it to be carried
out in a family's home. This allows parents and carers to include walking practice around the
family’s busy schedule and to suit the child. In addition, it promotes their involvement in
their child’s development.
Physiotherapy Interventions Developmental Milestones
Physical characteristics of the child with DS such as low muscle tone, loose joints and
decreased strength may influence the speed of mastery or alter the form of the
developmental milestone. Persons with DS generally naturally overcome these challenges
through perseverance [4].
The goal of physiotherapy is not to ‘speed up’ the rate of development. It is simply to
facilitate the development of optimal movement patterns. Depending upon capabilities and
adaptations made, physical compensations such as pain or inefficient walking patterns may
occur. of a physiotherapist is to provide the building blocks to develop a solid physical
foundation for movement and exercise that your family member can build on for life.
Physiotherapy sessions focusing on developmental milestones should be specifically tailored
to each child’s current level of development. It is important to observe the child’s abilities
and determine what skills should be learned next. As each person is different, skills should
be taught in the way the child learns best. It is important that tasks are broken into smaller
parts and practiced using different methods based on individual learning styles and physical
make up.
Encouraging the Family to Get Involved
It is important to get family members involved with treatment. Practice at home is essential
for mastery, and engaging family participation is key. You can teach the family to:
Use their child’s interests to encourage new skill development
Build on already mastered skills
Focus on what their child is willing to learn
Practice often
Be patient
Physiotherapy Interventions for Balance
There are a wide range of physiotherapy interventions that can help improve balance. Some
of them have been used for many years, while others are still developing and being
introduced. Some common traditional physiotherapy interventions to improve balance in
persons with DS are:
Stability Exercise (examples available here[89])
Corrective positioning (examples available here[90])
Stair climbing
Yoga
Hydrotherapy [91][24]
Some new emerging physiotherapy interventions being used to improve balance are:
Hippotherapy
Treadmill training
Two-wheel bicycle training
Tummy Time
Perceptual-motor therapy
Sensory integration training
Practice Makes Perfect: As with everything in life, practice will improve performance. While
it often takes more practice to improve performance of balance in a child with DS, it is
possible to increase both speed and accuracy of movement.
Encourage Independent Movement: When a person actively initiates a movement, the brain
learns how to control the area being moved. This improves coordination and task
performance.
Follow Individual Interests: A child is more likely to eagerly participate if the activity is one
that is enjoyed. Try encouraging the family to incorporate balance training into sports and
games.
The Earlier the Better: Starting balance practice early in a child’s life will allow for a greater
amount of learning time and increase muscle strength at a young age.
It’s Never Too Late: Though it is harder to correct learned bad habits, practice at any time is
helpful. It is never too late to start.
Individuals with DS are more commonly visual learners. This means that they learn better by
watching others or copying what they can see rather than responding to verbal instruction.
Copy cat is a great game to help a family teach their child new tasks [92]
Physiotherapy Interventions for Strength
Physiotherapy has been quite successful in strength interventions with persons who have
DS. There are many techniques that can be used and resources which can be explored.
Some of the most common methods to increase strength are:
Method Description
Endurance training Large groups of muscles working at moderate intensity
Weight training Small groups of muscles working at high intensity for a
Specific muscle training Targeting specific weak muscles[93]

Each of these techniques has been shown to equally increase exercise capacity, health and
quality of life in individuals with DS [94]. While these general workout types work well to
increase strength, physiotherapists can also offer more specific exercises based on your
child’s needs. Below are evolving exercise ideas you can discuss with your physiotherapist or
read more about later in the wiki:
Tummy time
Treadmill training
Falls prevention exercises [95]
In order to achieve good results, it is important to advise the family on specific exercises,
and correct technique. Increasing compliance to exercise will have positive benefits and can
help with improving strength and development:
Start early: Encourage the family to introduce strength training from a young age, this may
help avoid later complications
Encourage family members to do exercises with the child.
Encourage other types of activities that can build strength such as sports
Incorporate strength training into things a child enjoys [96].
Physiotherapy and Physical Activity
Physiotherapists can play a role in encouraging preventative health promotion with their
patients who have DS. According to the World Health Organisation [97], the recommended
daily physical activity requirements for children is at least 60 minutes of moderate to
vigorous intensity daily physical activity. Your physiotherapist can help recommend specific
activities suitable for your child and direct you to resources in your area!
Moderate Activity Vig
Aim Increase heart rate and breathing. May cause a light sweat Ma
Example Brisk Walking Sw

Active Play Te
Slow Bicycling Ru
Water aerobics Fa
Slow Dancing [34] Fa
Hik
Evidence is also growing to support other fun and creative physiotherapy interventions for
your child to be physically active including:
Treadmill Training
Two-Wheeled Bicycle Riding
Structured accessible programs that make adaptations for children with DS have been
identified as key to facilitating participation in physical activity [38]. As well, it has been
recommended that introducing diverse and interesting physical activity programmes which
avoid over-complicated tasks, may be more enjoyable for people with DS [98].
One of the most important facilitators identified for improving physical activity participation
levels of people with Down syndrome is the support and motivation they receive from their
family and carers [38]. Some parents who were interviewed felt their child was more likely
to be active when the physical activity was enjoyable and included being with friends or
their siblings [37][99]. Introducing physical activities into a child’s routine will increase
familiarity and facilitate increased levels of participation [100]. Encouraging the family to
keep an activity or exercise log and organising a routine check as well as providing positive
feedback, has previously been a suggested as a helpful method to increase motivation
towards physical activity participation [99].
Other tips to help encourage children to be physically active include:
Choose an activity that the child will enjoy or wants to do.
Encourage childhood games that are traditional and active such as hopscotch, hide and seek
or obstacle courses.
Use simple ways to get children to be more physically active in daily life such as walking to
school, taking the stairs instead of the lift or walking the family dog.
Keep things simple; running, jumping, dancing are great physical activities to build a child’s
fitness and there are no-cost requirements! Encourage parents to join in and get fit too!
Give your child lots of positive and encouraging feedback. [35].
Physiotherapy Interventions for Sensory Problems
Physiotherapists have recently become more involved in the treatment of sensory issues.
While this field is still growing, there are a few areas in which physiotherapy has been
successful:
Advice on desensitisation and calming procedures
Provision of sensory-specific activities
Creation of sensory and behavioural strategies
Sensory integration therapy (SIT) - which will be discussed in depth later in the wiki
Here are some ideas for incorporating therapy into everyday activities:
When brushing teeth at night, try using a vibrating toothbrush to increase tolerance of
stimuli.
Before doing errands, such as taking their child to the hairdressers, try giving them some
chewy sweets for the different texture.
Encourage children to participate during meal prep or baking; perhaps by mixing ingredients
of different textures or carrying pots and pans of different sizes.
Encourage the family to involve their child in grocery chores; may allow the child to push the
trolley at the grocery and help with packing and putting food away.
Drinking through a straw, a weighted lap blanket or a big squishy seat cushion can all expose
children to different sensory experiences while eating.
With bathing, encourage parents to try out different brushes, cloths and soaps. Using crazy
soap or shaving foam to draw on the wall is an excellent activity. After bath time wrapping a
child tightly in a towel and apply pressure is another way to promote sensory activities. A
hug works well, if tolerated!
Suggest playtime games like the ‘sandwich game’ – lie the child in between two pillows so
they are effectively the sandwich filling and apply pressure on top to their liking. Any home-
made obstacle courses involving jumping, crawling, hopping etc. are usually fun and will be
beneficial [101].
Another idea is to create a ‘sensory corner’ which can be effective in reducing stress and
produce a safe zone for some children. It can provide stimulation for a hyporesponsive
person or create a comfortable retreat for a hyperresponsive person. Making a sensory
corner is easy! Just block off a corner of a room and use soft furnishings with different
textures. For example, use different carpets and pillows. Often a large beanbag or weighted
blanket can provide deep pressure that can have a calming effect. Objects like lava lamps, or
aquariums may be visually relaxing. Music or a sensory box filled with various objects that
differ in texture and weight can be useful. Each person is unique. An example of a sensory
room and sensory box are depicted below:
Physiotherapy Interventions for Mental Health and Well-being

Physical activity has demonstrated excellent benefits for the mental well-being of
individuals with Down syndrome. The benefits include greater life satisfaction, reduced risk
of depression, increased self-esteem, and improved social and behavioural skills [54][38].
Any activity that promotes social interaction and friendship will further enhance mental and
emotional well-being. Some recommended interventions are:
Two-wheeled bicycle training
Sensory integration training
Perceptual-motor therapy
Hydrotherapy
Yoga
Work with the family to develop a behaviour treatment plan.
Encourage the family to take opportunities to interact with others! While most people learn
the majority of their social skills in school and work, people with Down syndrome need to
“make every contact count”. Whether it is in therapy, school, work or at home, the
opportunity to learn is everywhere!
Support groups and therapies are a fantastic way of hitting two bases at once; therapy and
socialising.
Encourage families to develop a routine and stick to it. Try using visual schedules! This
method uses pictures or books to help prepare for upcoming events such as beginning a
new school year, going to a friend’s party or moving into a new house.
Plan for difficult situations. Try using social stories!
Where possible encourage the family to promote positive interactions and reduce the
negative ones. Make time for fun every day!
Explain the importance of encouraging positive behaviours and positive attitudes [4][63][82]
Below is an example of a visual schedule.
Physiotherapy Interventions and Alzheimer's

There is no specific physiotherapy treatment for Alzheimer’s, but there are some measures
that can be taken to assist in controlling this disease. Physiotherapists can:
Promote physical activity to delay the onset of Alzheimer’s
Encourage continued activities of daily living to prevent motor changes associated with
Alzheimer’s
Assist families in planning for caring for their family member with DS and Alzheimer’s
Refer families to specialty services for Alzheimer’s [102]
Another aspect in which physiotherapists have recently been involved is Alzheimer’s
screening programs for persons with DS. Since Alzheimer’s is so commonly associated with
DS, physiotherapists along with other health professionals have begun running yearly
screening clinics. These involve simple interviews and routine health checks to identify
people at risk of developing Alzheimer’s. This is a great way to keep on top of this possible
problem [103].
While there is nothing that can be done to prevent the development of Alzheimer’s, the
best defence is awareness. Changes in a person's actions, memory or communication can be
signs that something may be wrong.
Encourging yearly DS screening clinics will help people to monitor changes and get an early
warning should they be at risk of developing the disease. Encourage the family to read up on
Alzheimer’s and create a possible plan in advance may minimize future stress.
Advise clients about the websites for the National Down syndrome Society and The
Alzheimer’s Association, they may find them helpful.
Other Challenges Associated With Down Syndrome
Reduced Social Interaction
Although not a Physiotherapy issue as such, it’s worth mentioning that the social lives of
persons with Down syndrome can be very different from others. Managing many of the
physiotherapy issues mentioned above requires time and effort spent in therapy and
carrying out home practice. As a result, persons with DS often find themselves meeting and
interacting with their peers less often than non-DS persons. This is something to consider as
meeting others is important for developing social and life skills.
Social skills which can differ in people with DS include:

Social understanding and empathy
Friendship making
Play and leisure skills
Personal and social independence
Socially appropriate behaviour [105]
These are important skills that need to be addressed. A few suggestions to help parents
improve these aspects of a child’s life are listed below:
Start from an early age and encourage socialisation
Encourage independence in all aspects of life
Teach social skills in small steps, with consistent messages
Sign their child up for sports teams, other activities they enjoy
Encourage parents to talk with teachers and monitor their child's progress
Join playgroups with other children with and without DS
Provide examples of acceptable social behaviour when watching TV or movies [105]
Transition From Child to Adult Services
Becoming an adult can be confusing and difficult for everyone, especially for people with
caring needs or intellectual disabilities (ID). When a person with DS gets older they are
transferred from children’s services to adult care. The exact age may change depending on
the service or area you are located in. This transition is often accompanied by a change in
physiotherapist, services available and a disruption to routine. It is often a stressful time and
has historically been an issue for service users. In an attempt to correct this, several pieces
of legislation have been set out by the UK government.
The Road Ahead Project was commissioned by the Social Care Institute for Excellence (SCIE)
in order to explore what information people with DS and their parents might need during
the transition [106]. The most common pieces of information families wanted to know
were:
Parental roles within the transition process including their rights and entitlements
The local situation – support and resources available
The young person’s rights and responsibilities as an adult including information on self-
advocacy, empowerment and keeping safe
All possible options available
The Education Act [107] states that at the time of transition, healthcare professionals have
several responsibilities;
Provision of written advice including details about services likely to be required in the near
future once they have left child services
Discussion of transfer to adult services with the individual, their family and GP
Facilitation of any necessary referrals
Attend individual’s annual review meetings from year 9 onwards
Despite numerous government legislations and guidance, research strongly says that there
continues to be a marked variation in the arrangements available for the transition from
child to adult services [108]. In order to combat this, some further steps have been taken.
Collaboration
Increased collaboration between Child and Adolescent Mental Health Services (CAMHS) and
adult intellectual disability services.
More Training for Staff
Better education for staff in both adult and child services
Improved knowledge of legal changes associated with becoming an adult
Expanded awareness regarding available referral options
Better Integration Between Services
Different services are unique in their structures and philosophies – if there was more
integration between services and increased awareness of each other’s role, a more uniform
and continuous service could be provided [109].
How Can You Make the Transition Easier?
While the transition between services relies heavily on geography and physiotherapy
services there are a few ways to make this transition easier:
Make a plan with the family in advance.
Give information on adult services prior to transitioning.
Set a date for the transition to occur.
Offer to conduct a joint session between new and old services to ease the transition for
service providers and the patient and their family.
Include the client and their family in the transition decisions [111].
Remember!
Down syndrome can be challenging not only for the individual, but also for the family. It is
common for family members of persons with DS to:
Feel increased levels of stress

Experience lower levels of well being
Exhibit mild depressive symptoms
Have decreased confidence in raising their child
Think about their child’s social acceptability
Worry about their marriage or their other children [112]
Much research has been done on family dynamics and though results are often unclear,
recent investigation is revealing that the increased levels of stress and decreased levels of
well-being are evident in parents with a child who has DS for a variety of reasons.
Demanding parenting roles, concerns over their family member’s social acceptability and
decreased confidence in parenting skills are just a few contributors to high-stress levels in
parents of persons with DS [113].
For this reason, it is important that you remind family members to take time to focus on
themselves. Taking time for themselves may improve both their personal mental health and
their families’ overall well being. Though these small things may seem insignificant they can
have a dramatic effect on how they feel and the cohesiveness of their family unit [114].
Related articles
Musculoskeletal Effects Of Down Syndrome - Physiopedia
Introduction Down syndrome is a chromosomal condition characterised by the presence of
an extra copy of genetic material on the 21st chromosome, either in whole (trisomy 21) or
part (such as due to translocations).[1][2] Diagnosis Down syndrome is diagnosed in two
ways, during pregnancy or shortly after birth. The diagnosis is always based on the presence
of an extra number 21 chromosome on a karyotype[3].[4][5] Effects on the Musculoskeletal
System Reduced Muscle Strength Bone mass and bone geometry are influenced by growth
and muscle development in children and adolescents. This process is further modified by
hormonal signals. Motor function in individuals with Down syndrome is characterised by
hypotonia[6] and hyperflexibility, which results in an increased risk of joint dislocation and
retarded motor skills. Hypotonia, decreased muscle tone, has a negative effect on the
proprioceptive feedback from muscle and joint sensory structures and can have a
detrimental effect on the efficiency of co - contractions and postural reactions. People with
Down syndrome have hyperflexibility, more joint mobility than the average. The increased
joint mobility may contribute to the lack of posture control. Together with the failure of co-
contraction, it can have a negative impact on joint stability. This joint laxity is found in
several parts of the body[7] due to the abnormal collagen found in Down syndrome. Vitamin
D Deficiency There is a damaging effect of vitamin D insufficiency on musculoskeletal health
in children and adolescents during the critical time of bone-mass accrual.[8] Vitamin D is not
only essential for normal growth of children, but also for the preservation of the bones.
Vitamin D is also important for other functions such as muscle tone, the immune defence
and even cancer. Vitamin D, per oral absorbed through food or created under the influence
of sunlight, is a precursor of the hormone 1,25 – dihydroxyvitamin D. The latter stimulates
the small intestine absorption and kidney reabsorption of calcium and thus ensures a better
bone. In patients with Down syndrome, risk factors, such as inadequate exposure to sun,
inadequate vitamin D intake and malabsorption or increased breakdown of vitamin D that
accompanies anticonvulsant therapy, contribute to vitamin D insufficiency. Down syndrome
patients usually have osteoporosis and fractures as a result of this deficiency. Bone Mass
The accrual of bone mass during childhood is a key determinant of bone health in
adulthood, and a low peak skeletal mass is considered an important risk factor for
osteoporosis in adult life. Multivariate analysis showed that Down syndrome was associated
with low Bone mineral density (BMD) of the spine. Lack of physical exercise, low muscle
strength, insufficient exposure to the sun, low levels of vitamin D and prolonged use of
anticonvulsants are all additional risk factors for low BMD. Some experts hypothesise that
the extra copy of chromosome 21 could be responsible for the short stature, skeletal
abnormalities and early ageing that are seen in patients with Down syndrome.[9][10]
Physical Therapy Physiotherapy can play a major role in the management of children with
DS; through movement and exercise, manual therapy, and education physiotherapists can
empower people to take charge of their own health and participate in their treatment. The
aim of treatment is to assist people to live as independently as possible [11] One goal of
physical therapy is to minimise the development of the compensatory movement patterns
that children with Down syndrome are prone to develop. Working with their muscles and
movements will help children reach some of their motor milestones and will prevent them
from developing problems, such as bad trunk posture and gait problems. Gait Problems
Children with Down syndrome typically learn to walk with their feet wide apart, their knees
stiff and their feet turned out. They do so because hypotonia, ligamentous laxity and
weakness make their legs less stable. Physical therapy should start with teaching the child
with Down syndrome the proper standing posture when he is still very young. So, feet
positioned under the hips and pointing straight ahead with a slight bend in the knees. With
appropriate physical therapy, gait problems can be minimised or avoided.[12] Posture
Children with Down syndrome typically learn to sit with a posterior pelvic tilt, trunk rounded
and the head resting back on the shoulders. Physical therapy must teach the child the
proper sitting posture by providing support at the proper level even before the child is able
to sit independently. Appropriate physical therapy can minimise problems with trunk
posture. Balance It is common for children with DS to be delayed in reaching common
milestones such as sitting independently, standing and walking. One of the contributing
factors to the delay of these specific milestones is poor balance. It is well known that
persons with DS are often considered floppy, clumsy, uncoordinated and have awkward
movement patterns due to balance issues. These balance challenges often follow the child
into the teen years and sometimes into adulthood [13] [14] Evidence for Physiotherapy
Intervention Without physical therapy, a child with Down syndrome could end up having
postural, gait and orthopaedic problems later in life from using their muscles incorrectly.
They also are at greater risk of joint problems if muscles are not strengthened.The
importance of early intervention should be emphasised. Physical therapy at an early age
strengthens the muscles, enabling the children with Down syndrome to keep their body in
proper alignment and prevent future health problems[15] An example of a training
program[16] titled "Effects of a community – based progressive resistance training program
on muscle performance and physical function in adults with down syndrome: a randomised
controlled trial, 2008" aimed to improve muscle strength with progressive resistance
training. In conclusion the trail concluded that progressive resistance training is a safe and
feasible fitness option that can improve upper-limb muscle endurance in adults with Down
syndrome. Various other studies illustrate also positive effects on motor skills.
Pediatric Patient Resources - Physiopedia
Introduction This page contains resources for physiotherapists and families relating to rare
conditions diagnosed within the pediatric population.
Autism Spectrum Disorder and Autism Definition Group of complex disorders of the brain.
Varying degrees of characteristics including: difficulties in social interaction, verbal and
nonverbal communication and repetitive behaviors[1]. Autism Spectrum Disorder (ASD): can
display with intellectual disabilities, difficulties in coordination and attention and physical
health issues. Autism: most obvious signs and symptoms tend to emerge between 2 and 3
years old How Common Are Autism And ASD? ASD: Affects over 2 million individuals in the
United States Autism: Effects ~1:88 children ~4-5 more times likely in boys than girls An
estimated 1 out of 54 boys and 1 in 252 girls are diagnosed in the United States Causes No
one cause Rare gene changes Most cases are a combination of gene changes and
environmental factor Risk factors (do not cause autism by themselves, but could have an
influence when combined with genetic risk factors): Clearest evidence involve events before
and during birth Advance age at conception Maternal illness during pregnancy Difficulties
during birth (i.e. Oxygen deprivation) Genetic risk factors (Autism tends to happen more
frequently in the following conditions)[2] Fragile X Syndrome Tuberous sclerosis Congenital
rubella syndrome Untreated phenylketonuria (PKU) How is ASD/Autism Diagnosed? No
specific medical test Administer autism-specific behavioural evaluations Parents usually
notice: Failure to make eye contact Not responding to their name Playing with toys in
unusual or repetitive ways Other signs The Modified Checklist of Autism in Toddlers: List of
informative questions about child Answers can indicate whether further evaluation by a
specialist is needed Screening tool Typical diagnosis involves a multidisciplinary team
Genetic testing may be recommended Resources for Autism Kentucky Autism Training
Center Find specific services by region or county Examples of services include: hippo
therapy, social skills group, community living supports and day care Autism Society of
Kentuckiana Become a member Find resources, learn about news and events Offers an
autism dad’s group Autism Speaks Has information on current news and research, family
services and events around the United States There is also a blog available; as well as ideas
for autism apps National Institute of Neurological Disorders and Stroke Fact sheet on ASD
and Autism Autism Research Institute Find out about current research
http://www.autism.com/ Autism Society Has news, research and ways to get involved
Section about living with Autism Cerebral Palsy (CP) Definition Cerebral Palsy describes a
disorder of movement, muscle tone or posture that is caused by injury or abnormal
development in the immature brain.[3] How Common is CP? [4] Usually not diagnosed until
the age of 2 or 3 ~2-3:1,000 children over the age of three have the condition ~500,000
children and adults have CP in the United States Types[4] Spastic: ~70-80% of cases
Associated with stiff muscles, making movement difficult Spastic diplegia: Both legs are
affected Causes tight muscles in the hips and legs Inward turned legs leading to crossed
knees (scissoring) Spastic hemiplegia: One side of the body affected Arm
often more affected than the leg Spastic quadriplegia: Most severe All four
limbs and the trunk are affected Often also affect muscle of tongue and mouth
Athetoid or Dyskinetic: 10-20% of cases Affects entire body Fluctuations in muscle tone
Uncontrolled movements Difficulty with: Learning to control body Sucking Swallowing
Speech Ataxic 5-10% of cases Affects balance and coordination: Unsteady gait Difficulty with
motions that require precise coordination Causes[3] Abnormality or disruption in brain
development Random mutations in genes Infections of the mother that would affect the
developing baby Disruption of blood supply to the developing brain Lack of oxygen to the
baby’s brain Infant infections leading to inflammation around the brain Traumatic head
injury Risk Factors[3] Mother’s health: Certain infections or health problems significantly
increase the chance to giving birth to a baby with CP: Rubella Syphilis Chickenpox Other
conditions Infant’s health: Certain illnesses in a newborn significantly increase the chance of
the baby developing CP: Bacterial meningitis Severe or untreated jaundice (yellowing of the
skin) Viral encephalitis Other factors: Premature birth Low birth weight Breech births
Multiple babies How is CP Diagnosed?[3] Signs and symptoms usually appear during infancy
or preschool years: Impaired movement associated with: Exaggerated reflexes or rigidity of
the limbs and trunk Abnormal posture Involuntary movements Unsteadiness of walking
Combination of these Other signs and symptoms Brain scans: MRI: usually the preferred test
to use, will usually be given a mild sedative to remain still Cranial ultrasound: can provide a
preliminary assessment, placed over the soft spot (fontanel) of the baby’s head CT scan: will
likely be given a mild sedative to remain still Electroencephalogram (EEG): Done if the child
has a history of seizures Records the electrical activity of the brain Used to determine if child
has epilepsy Lab tests: Blood is checked to rule out other conditions May also screen for
metabolic or genetic problems Additional tests: If diagnosed with CP, may go through these
other tests to screen for other associated conditions: Vision impairment Hearing impairment
Speech delays or impairments Intellectual disabilities or mental retardation Other
developmental delays Resources for Cerebral Palsy MyChild™: Their mission: “to provide
you with the most comprehensive resource and compassionate voice for all things related
to caring for a child with cerebral palsy, and other neurological conditions. We strive,
everyday, to be your ULTIMATE Resource for EVERYTHING Cerebral Palsy.” Cerebral Palsy
Resources Mattingly Center, Inc. Cerebral Palsy School of Louisville, Inc. Their mission “To
provide the highest quality of structured day services for adults with severe developmental
disabilities.” Down Syndrome Definition Down's Syndrome is a genetic disorder occurring
when the individual has full or a partial copy of chromosome 21. This extra genetic material
causes an alteration in the development of the child.[5] How Common is Down's Syndrome?
Most common genetic disorder ~1:691 babies are born each year with Down’s Syndrome
~6,000 babies are born each year with Down’s Syndrome Types Trisomy 21
(Nondisjunction): The pair of the 21st chromosome fails to separate Extra chromosome is
replicated in every cell in the body Accounts for ~95% of cases Mosaicism:
Nondisjunction takes place in chromosome 21 in one cell but not all cells Accounts for ~1%
of cases May have fewer characteristics than other types of Down’s Syndrome
Translocation: Part of chromosome 21 breaks off during cell division and attaches to another
chromosome, typically chromosome 14 Accounts for ~4% of cases Causes Cause of non-
disjunction is currently unknown: Research suggests the likelihood increases as women age
No definitive research suggesting environmental factors of the parents before or during
pregnancy Note: Age 34 is not accurate. NDSS has noted the error but has yet to find
out the correct information. How is Down’s Syndrome Diagnosed? Prenatally Screening
tests: Most only provide a probability Blood test: measures quantities of various substances
in the mother’s blood Ultrasound: checks for “markers” Diagnostic tests: Can provide a
definite diagnosis with almost 100% accuracy Carry up to a 1% risk of causing a spontaneous
termination Chorionic villus sampling (CVS): usually performed in first trimester between 9
and 11 weeks Amniocentesis: usually performed in the second trimester after 15 weeks At
birth Usually identified by certain physical traits: Low muscle tone Single deep crease across
the palm of the hand Slightly flattened facial profile Upward slant to the eyes Chromosomal
analysis may also need to be done to confirm the diagnosis: This is done by drawing a
sample of the baby’s blood Resources for Down Syndrome Down Syndrome of Louisville
Lifelong learning center for individuals with Down Syndrome National Down Syndrome
Society Information about Down Syndrome Lists resources including: Publications Managing
behavior Research And more! National Association for Down Syndrome Programs Resources
and information Real Life Down Syndrome Blog spot Gives insight on how to raise a child
with DS Search resources by state Kentucky Parent Support Groups Lists support groups by
county Activities and Equipment Sites for the Pediatric Population Below are websites for
you to look around for fun activities to enjoy outside of therapy sessions: PediaStaff Your
Therapy Source Starfish Therapies Below is a list of equipment sites for you to look around:
Equipment Shop Cascade Therapy Shoppe Flaghouse Rifton Adaptive Mall Abilitations Fun
and Function Yellow Brick Road Shop eSpecial Needs Resources Kosair Childrens
Hospital Look into conditions and services Find a doctor See current news Visit their health
library Pediatric Leukemias The Children’s Hospital of Philadelphia In depth resource of
pediatric leukemias Pediatric Rheumatology Review of childhood
sarcoidosis Multiple Sclerosis Foundation Insight on pediatric MS
Coping with MS Failure to Thrive Clinical key by Elsevier In depth overview of diagnosis
National Organization for Rare Diseases Search the rare disease database and download the
free report The Global Genes Project Learn what they are about Get involved Resources
available: Search their RARE list Search their RARE facts
Angelman Syndrome - Physiopedia
Description of Angelman Syndrome Angelman Syndrome is a complex genetic disorder
affecting the nervous system. It is characterized by severe learning difficulties, motor
dysfunction, seizure disorder, and often a happy, sociable disposition. Prevalence The
estimated incidence of Angelman Syndrome is 1 in every 12000-20000 live births; with
males and females being affected equally [1]. Cases have been reported all over the world,
with no preference for specific races or populations [2] Pathological Process Angelman
Syndrome is caused by 4 molecular mechanisms: [3] Maternal deletions of chromosome
15q11-q13 (70-80%) Intragenic mutation in maternally inherited UBE3A which is found in
chromosome 15q11-q13 (10-20%) Paternal uniparental disomy (UPD) in chromosome
15q11-q13 (3-5%) Imprinting defects in chromosome 15q11-q13 which change the
expression of UBE3A (3-5%) Those with the maternal deletion have a more severe form of
the disease, while those with the mechanisms of UPD or imprinting have less severe defects
[4] There is typically no family history of the disease because the genetic changes are
random events that occur during the formation of the reproductive cells (egg and sperm) or
early in the development of the embryo. [5] However, individuals with AS are capable of
reproduction and in one case study with a female, it was observed that she passed the
deletion on to her fetus [6]. Therefore, it may be possible to pass the gene along to
offspring. Life expectancy of individuals with Angelman Syndrome seems to be close to
normal[5] Some delayed development can be observed at 6-12 months, while other
common symptoms usually occur before the age of 3 [4] Clinical Presentation Video created
by Foundation of Angelman Syndrome (FAST), Australia Observable Presentation May
present with facial features - thin upper lip, wide spaced teeth[4] Scoliosis (20% of children;
50% adults) [7] Motor Presentation[4] Tremors Jerkiness Ataxia Loss of balance Wide-based
gait Behavioural Presentation[4] Developmental delay is normally seen within the first year
of life: most patients lack speech completely but those mildly affected can speak a few
words Severe intellectual disability Hyperactivity and short attention span Mouthing of
objects Happy demeanor with increased laughter, and often an attraction to water
Additional Comorbidities That Present[4] Seizures (60% of individuals) Autism spectrum
disorder (ASD), Digestive system complications Constipation Gastroesophageal reflux
Changes in Presentation With Age[5] As individuals with Angelman syndrome age, they
often become less excitable but continue to have intellectual disability, difficulty with
speech, and seizures throughout their lives. Diagnostic Procedures Angelman syndrome may
first be suspected in infants due to gross delay of motor milestones and/or speech delay[8].
A physiotherapist may consider a diagnosis of Angelman syndrome based upon a detailed
patient history, a thorough clinical evaluation and identification of characteristic findings. In
order to confirm a suspected diagnosis, genetic testing must be completed via blood tests
such as DNA methylation [4]. Differential Diagnosis Table 1: Common Differential Diagnoses
for Angelman Syndrome [9] Differential Diagosis Key Shared Features with AS Key
Distinguishing Features Prader-Willi Syndome Developmental delays -Extreme feeding
problems -More severe behavioural symptoms such as obsessive-compulsive symptoms Rett
Syndrome Developmental delays, intellectual disability, speech impairment, seizures -Seen
only in females. -Stereotypical hand movements -Apraxia is more severe with loss of
mobility in later stages Mowat-Wilson Syndrom Delayed motor development, intellectual
disability, epilepsy -Distinct facial features -Intestinal complications Pitt-Hopkins Syndrome
Happy disposition, speech impairments -Distinctive hand and facial features -Self-aggression
and violent outbursts Outcome Measures Although there are no specific outcome measures
for Angelman syndrome; the following have been utilized in case-studies for assessment and
to track progress: Balance: Berg Balance Scale[10] Motor function/ performance: Gross
Motor Function Measure (GMFM)[10] Timed up and go[11] Considering the limited
literature base for physiotherapy and Angelman syndrome, physiotherapists should utilize
clinical reasoning to select an outcome measure that will appropriately assess the key
symptoms that their patient is experiencing. Physiotherapy Management and Treatment
Currently there is no cure for Angelman syndrome, thus treatment focuses on symptom
management. From a physiotherapy perspective, treatment focuses on the patient’s goals
and follows an impairment based approach to address symptoms and comorbidities.
Considering the large variability amongst individuals with Angelman Syndrome,
physiotherapy treatment goals will vary across different individuals. Currently, there is
limited research on physiotherapy treatment and Angelman Syndrome, as no randomized
control trials exist and most evidence comes from single case-studies.Examples of
treatments are as follows: Treatments to Target Orthopedic Symptoms Encourage Mobility
There are demonstrated benefits of mobility specific to Angelman syndrome to prevent
contractures and to improve bone density. Bone density can be decreased with prolonged
anti-epileptic drug treatment, so this is an important aspect to target during physiotherapy.
Specifically, stationary bicycles and tricycles have shown to be effective[7] Monitor for
Scoliosis Good management of posture can help prevent or alleviate scoliosis[7] A thoaco-
lumbar jacket may be beneficial [2] Address subluxed or pronated ankles (if present). It has
been suggested that this include taping or referral for orthotics [2] Treatment to Target
Motor Skills and Balance Balance Training A case-study suggests using a protocol in which
the patient is sitting or standing on different supports and having to perform upper-
extremity functional tasks, or reacting to perturbations [11] Treatment to Target the
Cardiorespiratory System Cardiorespiratory compromise should be considered and treated
in individuals who develop severe scoliosis[7]. Additional Treatment Occupational therapy:
Plays a key role in treating fine motor skills and self management skills to perform activities
of daily living. Speech Language Pathology: Plays a key role in treating difficulties with both
communication and swallowing. Behavioural Therapy: Plays a key role in addressing
behaviour-related symptoms such as hyperactivity. Clinical Guidelines for Angelman
Syndrome For more detailed information on the treatment of Angelman syndrome across
several health care providers, clinical guidelines have been created by the Angelman
Syndrome Guideline Development Group. Visit their document here: Angelman Guidelines
Clinical Bottom Line Overall, when treating individuals with Angelman syndrome it is
important to communicate with all members of their health care team, keeping in mind
their intellectual and speech impairments to ensure effective communication strategies.
Although individuals with Angelman syndrome do share similar symptoms, it is important to
recognize that no two patients are identical and individualized therapy programs should be
created. Additional Resources Canadian Angelman Syndrome Society: Visit their webpage
here Angelman Syndrome Foundation: Visit their webpage here FAST: Foundation of
Angelman Syndrome Therapeutics Visit their webpage here
Jacobsen Syndrome - Physiopedia
Introduction Jacobsen syndrome (JS) is a rare contiguous gene syndrome caused by partial
deletion of the long arm of chromosome 11 (1). It was first described by Jacobsen in
1973[1]. It is also known as 11q terminal deletion disorder because the deletion occurs at
the end of the long (q) arm of chromosome 11[2]. Incidence and Prevalence Jacobsen
syndrome is an uncommon genetic syndrome, with around 200 cases reported worldwide.
The prevalence of JS has been estimated to be at 1 in 100,000 newborns with a female/male
ratio of 2:1. Around 8-15% of cases are caused by a deletion from a balanced parental
chromosome translocation or rearrangement. Considering that 85092% of cases are of a de
novo origin[3]. The severity of symptoms depends on the location and size of the deletion.
The prevalence of Intellectual disability in individuals with JS is 97%. developmental delay
68-75%, platelet anomalies 88.5-94%, congenital cardiac malformation 56%, [3] Around 20%
of children die during the first two years of life, the main causes are complications of CHD
and bleeding disorder caused by thrombocytopenia[4] Clinical Presentation Jacobsen
Syndrome Growth retardation: weight and height below the 5th percentile[1]. Craniofacial
dysmorphism: trigonocephaly, high prominent forehead, flat occiput, thin and brittle hair,
down slanting palpebral fissure, palpebral ptosis, epicanthal folds, iris coloboma, arched
eyebrows, hyper telorism, small and low set ears, short nose with large and depressed nasal
bridge, anteverted nostrils, down turning corners of the mouth, large mouth, high palate,
dental anomalies, micrognathia[1]. Limbs anomalies: brachydactyly, clinodactyly,
comptodactyly, bilateral simian crease, clubfoot, muscular atrophy, stiff joints, pectus
excavatum, dorsal scoliosis, lumbar lordosis[1]. Neuromotor and psychiatric disabilities:
delayed standing and walking, language learning difficulties, compulsive, hetero-aggressive
and auto-aggressive behavior[1]. Increased possibility of autism spectrum disorder
characterized by impaired socialization and communication skills[5]. syndromic primary
immune deficiency (SPID)[6]. Most of the people with Jacobsen syndrome are diagnosed
with Paris-Trousseau syndrome which is a bleeding disorder[7]. Additional signs and
symptoms appears in puberty: primary amenorrhea, genital infantilism, repeated episodes
of sinusitis[1]. Diagnostic Procedures Diagnosis is based on clinical findings
(thrombocytopenia, intellectual deficit, and facial dysmorphic features) and must be
confirmed by cytogenetics analysis[2]. Differential Diagnosis Some of the clinical features of
children with Jacobsen syndrome are shared with Tuner and Noonan syndrome; such as
short and wide neck, short stature, ptosis, pulmonary or aortic stenosis, and down-slanting
palpebral fissure. Some children with JS have had clinical diagnosis of Kabuki syndrome due
to mental retardation, unusual palpebral fissures, short stature, and finger-pads[2].
Management Jacobsen syndrome is a chromosomal disorder in which children with JS will
have a global developmental delays, presented by delayed motor and speech milestones.
Hence, they should be referred to physical and/or occupational therapists in order to
overcome the motor developmental delay[8]. Intensive neurodevelopmental treatment
(Bobath approach) three times weekly, 60 minutes a day, for 3 months is recommended as
it shows improved gross motor function and higher compliance than conventional NDT[9].
Bobath approach is developed through observation of the child and the desire to find the
best solution to overcome the motor delay. Each child should be assessed in terms of
individual movement expression and the potential to maximize their movement efficiency.
Treatment cannot be repetitive or stereotype as it has to continuously adapt to the
individual's progression. The Bobath approach is a goal-oriented and task-specific concept
that aims to change the construct both the internal and external environment in which the
individual and the nervous system can function efficiently and effectively. Integrating play
within NDT is proven to have many benefits in improving developmental delay. It improves
cognitive and perceptual skills and acts as a stimuli for normal movement patterns by
providing appropriate activities. The adaptation of children with activity is essential for an
effective play activity. That involves: Adapting the shape,size and consistency of the used
material. Modifying the procedure and rules of the play activity. Adjusting the position of
materials and the child. Controlling the degree of interpersonal interaction. If the motor
demand is high, the cognitive demand has to be lowered to meet the changing needs f the
child[10]. [11]
Spinal Muscular Atrophy (SMA) - Physiopedia
Introduction Spinal Muscular Atrophy (SMA) is a genetic condition under the scope of the
neuromuscular disorders and Motor Neurone Disease MND. It is characterised by
degeneration of alpha motor neurons in the spinal cord that affects the control of voluntary
muscle movement. The disease is characterised as an autosomal recessive condition with
prevalence of approximate 1 in 6-10,000 births affected by SMA with a carrier frequency of
1 in 35-70[1]. Classification of SMA type depends on the age of onset and the highest level
of motor function achieved[1] [2] Clinically Relevant Anatomy SMA is caused by deficiency
of a motor neuron protein called SMN (Survival Motor Neuron). This protein is essential for
normal motor function and the lack of it is caused by genetic flaws on chromosome 5 in the
gene SMN1. The neighbouring SMN2 gene can compensate some of the functions of SMN1
and this is where some of the pharmaceutical companies trying to develop a drug which can
enhance the effect of SMN2. Mechanism of Injury / Pathological Process Spinal Muscular
Atrophy is an autosomal recessive condition due in most cases to the homozygous deletion
of the SMN1 gene[3]. This means that both parents of the affected individual are only
carriers of the affected gene. Therefore, they are not going to present with any symptoms of
the disease and this is what makes SMA difficult to foreseen and apply preventable
measures. Clinical Presentation Spinal Muscular Atrophy (SMA) is the second most common
neuromuscular disorder of childhood. People affected by the mildest types of SMA have
proximal weakness and impaired ambulation. Furthermore, fatigue is a symptom to present
in almost every case of SMA which may also lead to impaired function and endurance.
Current research in the area shows that there is good correlation between upper and lower
limb function in patients with the disease. There are several types of SMA, which start at
different ages and may present with various phenotype[4]. Types of SMA: SMA type I -
affects babies less than six months old and is the most severe type of the disease SMA type
II - develops in babies between 7 and 18 months old. This type is less severe than type I and
most children survive into adulthood and can live long, fulfilling lives. SMA type III - appears
after 18 months of age and is the least severe type affecting children. SMA type III has been
divided into two further sub-categories: SMA IIIa and SMA IIIb - according to the time when
the first symptoms of the condition appears (if before or after 3 years of age). SMA type IV -
this type of SMA patients are diagnosed in adulthood and they present with only mild
problems. Diagnostic Procedures Diagnoses could be made by prenatal screening or by gene
panel investigation and/or muscle biopsy. In early stages the diagnose may be suspected
due to symptoms like floppiness and muscular weakness. Children with type I SMA can
present with lack of head control, minimal to absent anti-gravity movements and severe
respiratory complications. The first steps in diagnosing someone with SMA would be by
taking a full clinical examination and family history. As mentioned above, a blood test might
be required to look at the amount of creatine kinase (CK), an investigation to indicate if
muscle damage has occurred. High levels levels of the CK in the blood is not damaging itself,
but it is an important indicator of a muscle disorder condition. Further investigation will
probably include a genetic testing as this is the most accurate way to diagnose if patient has
Spinal Muscular Atrophy. Outcome Measures There are several outcome measures which
can be used to detect changes in the natural history of the patients with SMA. These tools
should be appropriate selected according to the age and severity of the disease. Six-Minute
Walking Test (6MWT) The Six-Minute-Walking-Test can be safely performed in ambulant
patients with SMA. It has been proven to detect fatigue-related changes in this population
of patients and also correlates with other established outcome measures for patients with
spinal muscular atrophy[5]. Revised Hammersmith Scale for SMA (RHS) The RHS is
predominantly used in patients with SMA type 2 and 3. In a combination with the WHO
motor milestones the scale can be more sensitive towards the description of SMA
phenotype. The RHS has been designed to capture wide range of of abilities across broad
spectrum of SMA, from very young children to adolescents and adults[6]. WHO
Developmental Milestones The WHO scales aims to link the growth of the child and the
motor development in one single reference. The final version of the protocol includes six
items: "Sitting without support", "Hands-and-knees crawling", "Standing with assistance",
"Walking with assistance", "Standing alone", and "Walking alone". The WHO provides an
important information about child's gross motor development in different cultural
settings[7]. Revised Upper Limb Module (RULM) for SMA The RULM is specifically designed
outcome measure for upper limb function in patients with Spinal Muscular Atrophy. The
scale has shown good reliability and validity, which makes it a good choice for assessing arm
function in children and adults with SMA[8]. Management / Interventions Spinal Muscular
Atrophy (SMA) is a severe genetic condition which requires precise diagnosis and extensive
physiotherapy treatment in order to protect the muscles from rapid deterioration and
development of contractures. The management of SMA must be as a part of a broad multi-
disciplinary team which should include rehabilitation, spinal management, orthopaedics,
nutritional and gastrointestinal management. Recently, it has been stated that SMA might
be a multi-organ disease and more detailed examination should be performed. Further
recommendations have been made on pulmonary management and acute care issues in the
severe forms of spinal muscular atrophy[9]. Physiotherapy Assessment of the patient with
neuromuscular disease and particularly with SMA is of a great importance. Looking at
baseline function, joint range and power will assist the physiotherapist to follow on the
progression of the condition. Orthotics Splinting Taping Management of contractures
Exercise and activity Respiratory Care Many of the children and adults with Spinal Muscular
Atrophy will be dependant on pulmonary management due to loss of muscle function.
When a patient with SMA has a respiratory failure they need to be transferred on non-
invasive positive pressure ventilation (NIV). In order, this to be implemented in the best
possible way, a respiratory physiotherapist should be involved in the assessment and the
management of pulmonary complications[10]. Airway clearance (chest physio) is best
administered with the combination of Cough Assist and this should be the primary airway
clearance therapy for all SMA patients with respiratory illness. Suctioning is a critical part of
the treatment and should be used in all patients with excessive secretions or in those with
an ineffective cough. The high frequency chest wall oscillation (Vest) is another option for
managing secretions. However, there is no evidence that the Vest improve airway clearance
and secretions. Non-invasive positive pressure ventilation (NIV) should be used for
respiratory failure or to prevent chest wall distortion. Continuous positive airway pressure
(CPAP) should be used only when NIV is not tolerated or in the treatment of chronic
respiratory failure[10]. Differential Diagnosis Neuromuscular conditions: Duchenne
Muscular Dystrophy Charcot-Marie-Tooth Amiotrophic Lateral Sclerosis
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Physiopedia DS

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Introduction

Down Syndrome (DS) is a chromosomal alteration. Chromosomes are structures found in

Increased wear and tear on joints

Decreased body fat percentage

What is Sensory Integration?

Tummy Time in children without DS has been proven to be a positive contributor to

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Endurance training Large groups of muscles working at moderate intensity

Weight training Small groups of muscles working at high intensity for a

Specific muscle training Targeting specific weak muscles[93]

Example Brisk Walking Sw

Physiotherapy Interventions for Mental Health and Well-being

Physiotherapy Interventions and Alzheimer's

Social skills which can differ in people with DS include:

Feel increased levels of stress

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