Week 7: DCD, Autism, and Down's syndrome

what is developmental coordination disorder?

Neurodevelopmental disorder that starts in early childhood (3-5) in the DSM 5 criteria defined by:

1. learning and execution of coordinated motor skills is below age level given the child’s opportunity for learning

2. motor difficulties significantly interfere with ADLs, academic productivity, prevocation and vocational activities, leisure and play

3. onset is in the early developmental period

4. motor coordination difficulties are not better explained by intellectual delay, visual impairment, or other neurological conditions that affect movement

what is excluding criteria for delayed coordination disorder?

• disturbance not due to general medical condition such as CP, hemiplegia, or muscular dystrophy

• disturbance does not meet criteria for pervasive developmental disorder

• if mental retardation is present, the motor difficulties present must be in excess of those usually associated with mental retardation alone

what is the abbreviated DSM 5 Diagnostic criteria for DCD?

• criteria a: motor performance deficits

• criteria b: participation and ADL deficits

• criteria c: early onset

• criteria d: no exclusionary conditions

what might DCD also be referred to in the literature and in practice?

• specific developmental disorders of motor function

• clumsy child syndrome

• developmental dyspraxia

what is the prevelance of DCD?

5-6% of children and more often in boys

what are the common co-occurring conditions of DCD?

• ADD and ADHD - 50%

• specific learning disabilities

• speech and language disorder

• autism spectrum disorder

• conduct disorder (oppositional defiant disorder- ODD)

what motor aspects may be affected by DCD?

• low muscle tone

• infant reflex persistence

• difficulties with balance

• falls frequently and has awkward running pattern

• difficulty imitating body positions, dificulty following 2-3 step motor commands

• drops items

• difficulty with handwriting or drawing

• difficulty gripping, using utensils

• difficulty dressing

what are the psychosocial aspects affected by DCD?

• learning difficulties

• reading problems

• behavior problems

• poor interactive play skills

• lower self-esteem

• lower self-worth

• increased anxiety

• avoids physical activity

what are the characteristics of DCD?

• ADL limitations

• school challenges

• social implications

• communication issues

• physical and motor issues

what are the functional consequences of DCD?

• poor fitness

• obesity

• decreased physical activity

• poor self esteem and self worth

• emotional and behavioral problems

• impaired academic achievement

• at risk for being bullied

what has been show to work for DCD?

• PT and OT

• individualized treatment plans

• task specific training

• strengthening

• balance and proprioceptive training

• individual sports

• soccer drills

• team sports focusing on practice vs competitive games

what does NOT work for DCD?

• video game training

• sensory integration alone

• passive modalities and activities

• “waiting” for the child to outgrow the condition

what are the types of down sydnrome?

• trisomy 21 (3 copies of chromosome 21)

• translocation (part of extra chromosome 21 attached to another chromosome)

• mosaic (some cells have 3 copies, some cells have 2)

what are some causes of down syndrome?

there is unknown etiology but maternal age has been linked to increased prevalence

what is the incidence and prevalence of down’s syndrome?

1/691 live births in US, greater than 400,000 in US currently.

what are associated risks with down syndrome?

• congenital heart defect

• hearing loss

• obstructive sleep apnea

• ear infections

• eye disease, like cataracts

• eye issues requiring glasses

• intestinal blockage at brith requiring surgery

• hip dislocation

• thyroid disease

• anemia and iron deficiency anemia

• leukemia in infancy or early childhood

• hirschsprung disease

• older adults- alzheimer’s disease

what are factors of down’s syndrome that affect gross motor skills?

• hospitalizations

• cognitive status

• parent/family resources

• cardiopulmonary status

• hearing

• vision

• associated diseases

• reduced proprioception

• hypotonicity

what findings on the ultrasound may help with a prenatal diagnosis of down’s syndrome?

• short femur

• echogenic focus of the heart

• echogenic bowel

• sandal toe gap

• fluid behind the neck-nuchal transparency

what are the physical features of down’s syndrome?

• flattened face, especial the bridge of the nose with almond shaped eyes that slant up

• short neck

• small ears

• tongue that tends to stick out of the mouth

• tiny white sports in the iris of the eye

• small hands and feet

• single line across palm of hand (palmar/simian crease)

• small pinky fingers that sometimes curve toward the thumb

• sandal toe gap

• hypotonicity

• shorter in height as children and adults

what deformity is shown in the image?

sandal toe deformity

what is the general intellectual function of children with down’s syndrome ?

• most have IQ between 35-69 (indicates mild to moderate disability with slower comprehension, supervision for self care)

• average is 50

• highest cause of intellectual disability

what is the current life expectancy for down’s?

55-65 years (used to be much lower in past!- 9 years in 1929, 12 in 1949, and 35 in 1982)

what should physical therapy focus on for pts with down’s?

• focus on safety

• focus on developmental milestones

• improve strength, balance, coordination, motor planning, gait and functional mobility

which standardized outcome measure is valid to use with children with down’s syndrome?

GMFM-88 (66 is for cerebral palsy- this version came first!)

what are precautions for down’s?

• atlantoaxial instability

• dislocation of joints

• feeding difficulty (50-80%)

• cardiac complications

what is hypoplasia and how are children with down’s affected?

is the underdevelopment that affects neurological and musculoskeletal systems, potentially every systems in the body may be affected. children with down’s often are impacted and the numbers of systems involved affect the overall prognosis- variability in number of systems involved and to what degree- large variation in clinical presentations and outcomes

how is the neurological system impacted in down’s syndrome?

• reduced brain volume- about 75% of normal

• cerebellum is about 66% of normal

• smaller hippocampus

how is mild hypotonia classified?

movement patterns similar to children without DS at similar stage of development; sufficient muscle tone, strength, and voluntary control to initiate, adapt, and sustain movements during play

what is moderate hypotonia classified as?

able to initiate, adapt, and sustain movements during play but movements patterns are less efficient compared to children without DS; excessive motion in some weight bearing joints, wide base of support, reduced balance, compensatory movements when strength and tone are insufficient to meet task demands

what is severe hypotonia classified by?

difficulty initiating, adapting, and sustaining movements during play; frequency of movement may be limited- movements inefficient and characterized by compensations, may have limited voluntary control of movement

how is development of gross motor milestones different for children with down’s syndrome?

tend to achieve milestones at a slower rate typically due to decreased muscle tone and strength, resulting in delays in skills such as crawling, walking, and running.

what are the activity recommendations for individuals with down’s?

same as recommendations for all americans- 150 minutes/week moderate or 75 mins/week vigorous

what conditions might occur with aging with down’s?

• thyroid dysfunction

• CV disease

• obesity

• MSK disorders

• osteoporosis

• alzheimer disease

• depression

what is autism spectrum disorder?

• a lifelong neuro-developmental condition

• core features involved social communication and restricted or repetitive patterns

• abilities, strengths, and support needs vary widely

• motor difficulties may occur, but they are not required for diagnosis

what is the current prevalence for ASD?

about 1 in 31 children aged 8 years, occurs across racial, ethnic, and socioeconomic groups. genetic and environmental influences contribute, there is no single cause

what are the core diagnostic features of ASD?

• differences in social interaction and communication across settings

• restricted or repetitive movements, interests, or routines

• features begin during development and affect daily functioning

• a qualified diagnostic clinician considers developmental history and observation

how might features appear in children with ASD?

• social communication- difficulty with back and forth interaction and gestures

• routines: distress when an activity or sequence changes

• repetition: repeated movements, speech, or focused interests

• sensory responses: greater or reduced response to sound, touch, or movement

how are support needs classified?

level 1: Requiring support for daily activities and social interactions.

level 2: Moderate difficulties that necessitate substantial support.

level 3: Severe difficulties that require very substantial support.

describe level 1 (requiring support)

• without supports, deficits in social communication cause noticeable impairments

• difficulty initiating social interactions

• clear examples of atypical or unsuccessful response to social overtures of others

• may appear to have decreased interest in social interactions

• inflexibility of behavior causes significant interference with functioning in one or more contexts, difficulty between activities, problems of organization and planning hamper independence

describe level 2 (requiring substantial support)

• marked deficits in verbal and non verbal social communication skills

• social impairments apparent even with supports in place

• limited initiation of social interactions

• reduced of abnormal responses to social overtures from others

• inflexibility of behavior, difficultly coping with change, repetitive behaviors are frequent enough to be obvious to the casual observer and interfere with functioning in a variety of contexts

• distress or difficulty changing focus or attention

describe level 3 (requiring very substantial support)

• severe deficits in verbal and nonverbal social communication skills cause severe impairments in functioning

• very limited initiation of social interactions

• minimal response to social overtures from another

• inflexibility of behavior

• extreme difficulty coping with change

• repetitive behavior markedly interfere with functioning in all spheres

• great distress/difficulty changing focus or action

when is routine autism screening performed?

18-24 months, helps to ID risk and prompts further evaluation

what is the role of the PT in the team?

gross motor skills and functional mobility. assess movement when difficulties limit daily activities. address balance, strength, coordination, gait, and endurance as indicated. support access to play, school mobility, and community activity. coordinate care with the child, caregivers, and other professionals

what is the role of the OT?

daily activities, fine motor tasks, and sensory participation needs

what is the role of the SLP?

communication, including augmentative and alternative communication

what is the role fo the medical and mental health providers?

diagnosis and coexisting condition treatment

what are specific items of the history that should be taken for children with ASD?

• involvement in and outcomes of past therapeutic history

• early intervention services

• community based activities

• alternative programs such as special diets and supplements

• behavior management strategies- both currently used and previous trials

when preparing the examination, what is important to note with patients with ASD?

• use a predictable session and explain what will happen. offer simple directions, demonstrations, and processing time

• adjust noise, lighting, and space to the child’s needs

• allow breaks and caregiver input, watch for distress or withdrawal

what is the most important question to ask the parents of a child with ASD?

“which daily activity is most difficult or important?” What is the primary goal for PT?

describe the clinical reasoning for toe walking

since toe walking can occur with ASD and with other conditions. assess onset, symmetry, ankel motion, pain, and functional effects. refer for new onset, regression, weakness, or concerning asymmetry. chose management form examination findings and family goals

what are the guiding principles of effective intervention?

• no single approach works for every child with ASD

• early intervention

• family involvement

• individualized programming

• systemic intervention

• structures/predictable environments

• functional approach to behavior

what is the focus of exercise and physical activity with children with ASD?

increase on-task behavior and improvement in motor skill acquisition

what is important to think about when communicating with a child with ASD during PT?

• use short directions and show movement

• visual schedules can make an activity sequence clearer

• offer choices and a way to request help, break, or stop

• keep the child’s communication device available and coordinate with the SLP

what is important to consider with children with ASD and sensory needs during movement?

• sensory responses can affect comfort and access to activities

• individualize environmental adjustments and movement breaks

• link any strategy to a measurable functional outcome

• specialized sensory protocols require relevant training and team coordination

are sensory processing interventions effective?

there is limited proven effectiveness, BUT they can be helpful for certain children- weighted vests oo other compression garments, brushing or sensory diets, fidgets and fiddle toys, auditory integration and therapeutic listening programs (use them where they work!)

what is a wilbarger brush?

a specialized tool used in sensory integration therapy to assist individuals in processing sensory information, particularly for those with sensory processing disorders. It is used for activating the skin and stimulating the proprioceptive system to help improve sensory responsiveness.

how can we respond to distress in patients with ASD?

• pause and check for pain, fatigue, fear, or sensory overload

• consider whether directions of task demands are unclear

• provide a break or adjust the task and environment

• seek team support for persistent concerns or unsafe behavior

what do we need to consider about safety with children with ASD?

plan for wandering risk, water safety, and individual seizure precautions. progress activity while monitoring fatigue, pain, and distress

what needs to be a part of caregiver coaching in pts with ASD?

• practice on useful strategy with the caregiver

• embed movement practice in a familiar daily routine

• ask the carefiver to demonstrate and ID barriers

• use follow up to adjust the plan and check progress