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Genetic syndromes


Incidence and prevalence‍‍

  • Worldwide Health Organization(WHO) reports that a genetic disorder occurs in every 10/10,000 live births. The incidence of genetic disorder in general differs from condition to condition. (28)

Diagnosis

  • Based off of signs and symptoms of a particular characteristics associated with abnormal development, genetic testing can confirm probable diagnosis. Genetic testing consists of gene testing, biochemical testing and chromosomal testing taken from blood samples or other bodily fluids. (29)

Genetics

  • Each cell in the human body contains 23 pairs of chromosomes that contain DNA. Within DNA, genes carry information to determine the correct protein needed for each type of function occurring within the human body. At any point this process can be interrupted, resulting in a genetic mutation or chromosomal disorder. (12)

Mutations and chromosomal disorders

  • Mutations occur when the genetic sequence is interrupted and as a result a disease is produced. Usually the disease is an inherited disease because a gene has been mutated. On the other hand, chromosomal disorders are not hereditary. Part of the chromosome is missing, duplicated or transposed during gametogenesis. (12)

Physical Therapy Exam

This is a general template that can be used when examining children with genetic disorders. This includes major areas to be examined and the most common findings that children with genetic disorders will have. Depending on the genetic disorder that the child has you may need to add or delete sections of this exam.
  • Observation
    • Gross motor coordination, gross motor movements
  • Posture
    • Scoliosis, cervical kyphosis, and/or exaggerated lumbar lordosis
  • Reflexes
    • Hyperreflexia
  • Sensory
    • Hypersensitivity
  • Tone
    • Hypotonicity
  • Joint laxity
  • Range of Motion
    • Decreased ankle motion or any other abnormal ROM
  • Strength - functional or MMT depending on age
    • Decreased muscle strength
    • Consider proximal muscles
  • Gait
    • Any abnormalities such as wide base of support, toe walking, excessive pronation, and forward walking
  • Standardized testing (11)
    • Bayley Scales of Infant Development: used in children younger than 42 months
    • Bruininks - Oseretsky Test of Motor Proficiency Test: used in children older than 42 months

‍‍‍‍

Down syndrome

http://www.achildwithneeds.com/disabilities/other-heath-impairments/down-syndrome-a-bio-by-the-father-of-a-child-effected/
http://www.achildwithneeds.com/disabilities/other-heath-impairments/down-syndrome-a-bio-by-the-father-of-a-child-effected/

Just Like You Trailer from Down Syndrome Guild of KC on Vimeo.


This is the most common chromosomal condition. In fact, 1 in every 691 babies born in United States has Down syndrome. Every cell in the human body has 46 chromosomes. Down syndrome occurs when there is either an extra chromosome 21, increasing the number of total chromosomes to 47 (1),(2).
Subtypes of Down syndrome(3):
  • Translocation Down syndrome: a piece of chromosome 21 detaches and reattaches to another chromosome in a cell
    • 3% of Down syndrome diagnoses
  • Mosaic Down syndrome: nondisjunction of chromosome 21 occurs before an ovum is fertilized
    • 1-3% of Down syndrome diagnoses
Diagnosis
  • Prenatal(1):
    • Screenings only provide a probably that a child will have Down syndrome
      • Blood tests- look for baby’s genetic material in mother’s blood sample during the first and second trimesters
      • Sonogram – looks for markers of Down syndrome during the first trimester
    • Diagnositics: if positive, provide a 100% definitive diagnosis.(4)
      • Amniocentesis
      • CVS (chronic villus sampling)
      • PUBS (percutaneous umbilical blood sampling)
  • At Birth:
    • Physical traits:
      • Low muscle tone
      • Single crease across the palm of the hand
      • Flattened facial profile
      • Slanted upward eyes
      • Karyotype analysis of baby’s chromosomes
      • FISH- similar to karyotype analysis but generates quicker results
Common Characteristics
http://articles.complexchild.com/jan2011/00264.html
http://articles.complexchild.com/jan2011/00264.html

  • Oral motor and feeding delays (12,13)
  • Decreased verbal memory skills (12,13)
  • Expressive language impaired (12,13)

  • Physical Characteristics: (12,13)
    • Flat facial profile
    • Late fontanel closure
    • Low nasal bridge
    • Anomalous ears
  • Visual and Hearing Characteristics:(12,13)
    • Myopia
    • Nystagmus
    • Conductive hearing loss
  • Neuromuscular Characteristics: (12,13)
    • Mild microcephaly
    • Hypotonicity
    • Intellectual deficits due to abnormalities with structure and function of synaptic connections in brain
    • Developmental delay/decreased postural control and balance
    • Early onset Alzheimer’s disease
  • Musculoskeletal and Orthopedic Characteristics: (12,13)
    • Diastasis recti
    • Joint hypermobility
    • Atlantoaxial instability --> spinal cord compression
    • Shallow acetabular angle
    • Simian creases on palm of hands
    • Large gap between first and second toes
  • Cardiopulmonary Characteristics (12,13)
    • Ventricular septal defect
    • Patent ductus arteriosis
‍‍
Developmental milestones‍‍
(Adapted from Gross Motor Skills in Children with Down Syndrome: A Guide for Parents and Professionalsp 227-228) (5)
Gross Motor Milestone
Age of a Child with Down’s Syndrome (months)
Rolls from supine to prone
7 ± 2
Rolls from prone to supine
6 ± 2
Hand to foot play
7 ± 2
Sits unsupported
11 ± 4
Pivots in stomach lying 360 degrees
10 ± 3
Assumes quadruped
14 ± 6
Moves from sitting to supine
13 ± 5
Moves from sitting to quadruped
16 ± 7
Moves from supine to sitting
17 ± 7
Moves from quadruped to sitting
16 ± 7
Pulls to kneel from sitting
15 ± 4
Pulls to kneel from quadruped
16 ± 5
Crawling
14 ± 5
Creeping
17 ± 7
Bear walking
19 ± 4
Pulls to stand from sitting
15 ± 3
Pulls to stand from quadruped
17 ± 6
Pulls to stand from half kneel
17 ± 6
Standing to sitting with knees bent
17 ± 7
Cruising in one direction
18 ± 6
Steps 10 feet with two-hand support
19 ± 6
Stands without support for 10 seconds
21 ± 5
Takes 2 independent steps
23 ± 8
Walks 10 feet with push toy
22 ± 8
Walks 10 feet with one hand support
23 ± 8
Walks 10 feet without one hand support
26 ± 9
Climbs up a flight of stairs
20 ± 8
Climbs down a flight of stairs
25 ± 10
Climbs onto the sofa with seat cushion removed
20 ± 7
Climbs onto the sofa without seat removed
22 ± 7
Moves from plantigrade to standing
24 ± 9
Walks 100 feet in less than 25 seconds
37 ± 12
Runs 100 feet in less than 15 seconds
52 ± 11
Walks up a 4” curb without hand support
36 ± 12
Walks down a 4” curb without hand support
35 ± 12
Walks up a 8” curb without hand support
49 ± 13
Walks down a 8” curb without hand support
47 ± 12
Walks up stairs marking time holding the rail
39 ± 9
Walks down stairs marking time holding the rail
40 ± 10
Walks up stairs holding the rail alternating feet
56 ± 10
Walks down the stairs holding the rails alternating feet
81 ± 21
Walks across an 8’ long, 7” wide balance bean without hand support
38 ± 9
Walks across an 8’ long, 4” wide balance bean without hand support
64 ± 25
Jumps
47 ± 12
Rides a tricycle 15’
61 ± 11
Physical Threapy Interventions
  • AROM, strengthening
  • Parent education regarding physical therapy interventions
  • Developmental sequence training
  • Sensory integration
  • Treadmill training
    • Has been shown to increase lower extremity joint kinematics and to decrease developmental delay in walking. (6,7)





































  • ‍‍‍‍‍‍O‍‍‍‍‍‍rthotic Prescription --The need for orthotics is very common for children with Down syndrome. Hypotonicity and hypermobility can lead to structural and functional deficits causing developmental delay in walking, running, jumping and climbing stairs. A quick screening for orthotic needs can provide this population with an avenue to enhance developmental growth.
    • Orthotic Screening Parameters ‍
      • Height
      • Weight
      • Leg Length
      • Brighton Scale- to determine hypermobility at the ankle
      • Tibial Torsion
      • Navicular Drop Test
      • Calcaneal Eversion
      • Gait
        • Step length, stride length, base of support, velocity, single support time, cycle time and cadenc
    • Common orthotic prescriptions for children with Down syndrome
      • Foot orthoses

1949-o.png
http://www.orthotics-online.co.uk/1949-o.html
        • Provide needed support along the plantar surface of the foot
        • Engage ankle and foot musculature to support the foot without altering ankle motion
        • Improve balance, mobility and functional activities
      • Supramalleolar orthoses(SMO)
product_smo.jpg
http://www.surestep.net/products.php
        • Provide support above the ankle joint (medial/lateral malleoli).
        • Stronger control of ankle motion versus foot orthotic during gait
        • Conflicting evidence
          • One school of thought suggests that SMOs provide more functional mobility gains than foot orthoses
          • One school of thought suggests that SMOs decrease ankle mobility, motor learning and functional experiences
Aging into Adulthood
Most children with Down syndrome will live well into adulthood. As physical therapists it is important for our profession to keep in mind that the Down syndrome population is more susceptible to age-related conditions than those without Down syndrome. If we can educate the children’s parents on the changes and importance of exercise, diet management and community involvement, research shows that these interventions can increase this population’s life span and quality of life. (3)
Here are the age-related changes:
  • Hypothyroidism
  • Mitral valve prolapse
  • Decreased cardiovascular capacity
  • Obesity
  • Juvenile arthritis
  • Mid-cervical arthritis
  • Osteoporosis
  • Hip Dysplasia with dislocation and foot pronation
  • Middle ear infections and conductive hearing loss
  • Visiual abnormalities
  • Skin disorders
  • Sleep apnea
  • Depression
  • Alzheimer’s disease

Additional Resources

Williams Syndrome

Williams syndrome 2.jpg
http://www.williams-syndrome.org/

  • Williams Syndrome is a genetic disorder that is caused by a microdeletion on chromosome 7. Williams Syndrome is associated with cardiovascular disease due to the location of the deletion which contains an elastin gene. It occurs in 1/20,000 live births. (8,12,13)
  • Diagnosed by physical characteristics and genetic testing such as the fluorescence in situ hybridization test. (8)
  • Prenatal genetic testing for parents who have a family history of Williams Syndrome. (8)
Common Characteristics
  • Feeding difficulties during infancy (8)
  • Failure to thrive (8)
  • Frequent otitis media (8)
  • ‍‍‍‍‍‍‍Physical characteristics (8,12,13)
    • “Elfin” face
    • Full lips
    • Short nasal bridge
    • Large forehead
    • Short stature
    • Stellate pattern to iris
    • Strabismus – crossed eyes
  • Neuromuscular characteristics (8,12,13)
    Williams syndrome walking.jpg
    http://www.williams-syndrome.org/kansas-city-5k-run-walk-williams
    • Hypotonia
    • Gross motor delay – children usually walk by age 2
    • Cerebellar dysfunction
  • Musculoskeletal and orthopedic characteristics (8,12)
    • Hyperextensible joints when young
    • Radioulnar synostosis – osseous union of radius and ulna
    • Contractures when older - decreased ankle motion frequently
    • Spinal deformities - scoliosis, cervical kyphosis, and/or exaggerated lumbar lordosis
  • Cardiopulmonary characteristics (8,9,12,13)
    • Supravalvular aortic stenosis
    • Hypertension
    • Ventricular septic defect
    • Patent ductus arteriosus
    • Stenosis of arteries including the abdominal aorta
    • Aortic aneurysm
    • Pulmonary aortic stenosis
    • Left and right ventricular hypertrophy
    • Mitral valve prolapse
  • Gastrointestinal characteristics (13)
    • Gastroesophageal reflux disease
    • Hernias
    • Peptic ulcers
    • Diverticulitis
    • Chronic constipation
  • Endocrine characteristics (8,13)
    • Idiopathic hypercalcemia – children should not be given multi-vitamins because they contain calcium
    • Abnormal glucose metabolism
      Williams music.jpg
      http://abcdamusicoterapia.blogspot.com/2009/08/pasadena-during-his-recent-one-hour.html
  • Tactile sensory defensiveness (13)
  • Cognitive impairments – none to moderate disabilities (8,13)
    • Weakness in visuospatial skills
    • Strength in language and auditory memory
  • Emotional and social characteristics (8,13)
    • Overfriendly personality
    • Empathetic
    • High anxiety
    • Increased interest and connection with sound
Systems Review
  • Cardiopulmonary System
    • Heart rate – Useful to have a baseline when the child is completing aerobic exercise activities
    • Oxygen saturation – due to cardiopulmonary problems these children are at risk of have low oxygen saturation
    • Blood pressure - Useful to have a baseline when the child is completing aerobic exercise activities
  • Musculoskeletal System
    • Height
    • Weight
    • Size and shape of head
    • Abnormalities of eyes
  • Neuromuscular System
    • Eye contact
    • Eye tracking
    • Tone
  • Gastrointestinal System
    • Feeding habits
    • Reflux
    • Abdominal pain
  • Endocrine System
    • Abnormal glucose metabolism
‍‍‍‍‍‍‍Physical Therapy Treatment
  • AROM
  • Strengthening – functional strength training, core muscles
  • Stretching – for decreased ROM
  • Posture – positioning
  • Education – for parents about developmental milestones, physical therapy’s role in motor development
Additional Resources

Prader-Willi Syndrome

Prader Willi 5.jpg
http://www.pwsausa.org/syndrome/index.htm

  • Prader-Willi Syndrome is a genetic disorder that is caused by a microdeletion on chromosome 15. It occurs in 1/10,000 to 1/15,000 live births and is the leading cause of genetic childhood obesity. (12)
  • Prader –Willi Syndrome and Angelman Syndrome are both caused by the same deletion on chromosome 15. Prader-Willi Syndrome is caused when the microdeletion occurs on the chromosome 15 that is provided by the father. If the microdeletion occurs on the chromosome 15 provided by the mother then Angelman Syndrome results. Both disorders have different symptoms due to the differences in gene activation/inhibition that occurs in the genes provided by each parent. (13)
  • Diagnosed by physical characteristics and through genetic testing such as the fluorescence in situ hybridization. (13)

Common Characteristics
Prader Willi 3.jpg
http://www.pwsausa.org/syndrome/index.htm
  • Difficulty with feeding during infancy which can lead to tube feeding (12,13)
  • Excessive eating after the first year of life which can lead to obesity (12,13)
  • Physical characteristics (12,13,14)
    • Short stature
    • Small hands and feet with tapering fingers
    • Almond shaped eyes
    • Triangular shaped mouth
  • Neuromuscular characteristics (12,13)
    • Hypotonia during infancy
    • Poor fine and gross motor coordination
    • Gross motor delay: average age of sitting is at 12 months old and average age of walking is at 24 months old.
  • Musculoskeletal and orthopedic characteristics (12,13)
    • Scoliosis and/or kyphosis
    • Hip dysplasia
    • Osteoporosis
    • Excessive foot pronation
  • Cardiopulmonary characteristics (12)
    • Upper airway obstruction
    • Sleep apnea
    • Oxygen desaturation
  • Cognitive impairments – low normal to severe disabilities (13)
  • Behavior issues - stubbornness, temper tantrums, manipulative behavior (13)
    • Example of after dinner behavior issues

Systems Review
  • Musculoskeletal System
    Prader Willi 1.jpg
    http://www.pwsausa.org/syndrome/index.htm
    • Height
    • Weight
    • BMI – increased risk of being classified as obese
    • Osteoporosis
  • Cardiopulmonary System
    • Observe breathing - checking for shortness of breath
    • Oxygen saturation levels – may be decreased
    • Blood pressure – increased risk of hypertension due to obesity
    • Resting heart rate – Useful to have a baseline when the child is completing aerobic exercise activities
  • Gastrointestinal System
    • Document feeding habits and weight loss/gain
  • Endocrine System
    • Short stature
    • Increased hunger or decreased appetite
    • Diabetes – increased risk for Type II Diabetes due to obesity
Physical Therapy Treatment
  • Increase aerobic endurance – begin with aquatic aerobic exercise if necessary to decrease the child’s energy expenditure; Table below from Lewis article (14)
Aerobic conditioning for Prader-Willi Syndrome.png
  • Increase postural control –balance activities
  • Increase muscle strength – functional strength exercises or resistive strength exercises depending on the child’s age and ability; Table below from Lewis article (14)
Strength Training for Prader-Willi.png
  • Minimize the risk of cardiovascular disease and osteoporosis – encourage weight bearing aerobic exercise
Additional Resources

Additional Genetic Syndromes

Table of Additional Intellectual Disorders, Associated Symptoms and Community Resources (12)
Adapted from Table 17-1 Campbell, Suzann K.. Physical Therapy for Children, 4th Edition. W.B. Saunders Company, 012011.
Condition
Neuromuscular Impairments
Musculoskeletal Impairments
Cardiopulmonary Impairments
Community Resources
Cri du chat syndrome
A rare chromosomal disorder (1 in 50,000 live births) caused by loss of chromosomal material from region 5p (5p12)
Hypotonia in early childhood, sometimes hypertonia later
Facial and minor upper extremity anomalies, scoliosis
Congenital heart disease is common
National Human Genome Research Institute, NIH Genetics Home Reference, MedlinePlus
Cytomegalovirus (prenatal)
One of the most common causes of prenatal infections in developed countries, with incidence estimated to be between 0.15% and 2.0%
Cerebral palsy, seizure disorder, microcephaly (hearing problems)
Secondary to neuromuscular problems
Pulmonary vavular stenosis, mitral stenosis, atrial septal defect
CDC, MedlinePlus, Mayo Clinic
Cornelia deLange syndrome Caused by mutations in the NIPBL, SMC1A, and SMC3 genes; estimated to affect 1/10,000 to 30,000 newborn infants
Spasticity, intention tremor, seizure disorder (10%–20%), microcephaly
Severe growth retardation; decreased bone age, small stature, small hands and feet, short digits, proximal thumb placement, clinodactyly of fifth fingers, other arm and hand defects, limited elbow extension
Neonatal respiratory problems, congenital heart disease, recurrent upper respiratory infections
Cornelia deLange Syndrome Foundation, NIH Genetics Home Reference, Genetic and Rare Disease Information Center
Fetal alcohol syndrome
Caused by prenatal exposure to alcohol, the estimated prevalence of fetal alcohol syndrome is about 1%
Fine motor and visual motor deficits, balance deficits
Minor facial abnormalities, joint anomalies with abnormal position or function, maxillary hypoplasia, poor growth
Heart defects
National Organization on Fetal Alcohol Syndrome, CDC, Mayo Clinic
Fragile X syndrome
The most common form of inherited mental retardation, it is primarily caused by expansion of a sequence in the FMR1 gene of the X chromosome
Poor coordination and motor planning, seizures
Connective tissue abnormalities, which may lead to congenital hip dislocation in infancy and later to scoliosis and pes planus
Mitral valve prolapse
National Fragile X Foundation, National Institute of Child Health and Human Development, NIH Genetics Home Reference
Hurler's syndrome
Autosomal recessive storage disorder with lack of lysosomal hydrolase α-l-iduronidase
Hydrocephalus
Joint contractures, clawlike deformities of hands, short fingers, thoracolumbar kyphosis, shallow acetabular and glenoid fossae, irregularly shaped bones
Cardiac deformities, cardiac enlargement because right ventricular hypertension is common, death frequently due to cardiac failure
MedlinePlus, MPS 1 Research Foundation, National MPS Society
Lesch-Nyhan syndrome
Caused by a genetic deficiency of hypoxanthine-guanine phosphoribosyltransferase located on the X chromosome
Hypotonia followed by spasticity and chorea, athetosis, or dystonia; compulsive self-injurious behavior
Secondary to neuromuscular problems
None
NIH Genetics Home Reference, MedlinePlus, Lesch-Nyhan.org
Rett syndrome
Definitive diagnosis is accomplished by mutation analysis on leukocyte DNA for the gene MECP2.A study in Texas estimated prevalence of 1/22,800
Deceleration in rate of head growth in infancy, gradual loss of acquired skills after 6 to 18 months of age, loss of purposeful hand skills, stereotypic hand movements (clapping, wringing, clenching), apraxia, teeth grinding, seizure disorder
Scoliosis/kyphosis, growth failure, bone demineralization
Breathing irregularities, such as hyperventilation and breath holding
Supravalvar aortic stenosis, hypertension, peripheral pulmonic stenosis, and mitral
valve prolapse
International Rett Syndrome Foundation, National Institute of Neurological Disorders and Stroke, Mayo Clinic
For additional information regarding genetic syndromes:

Developmental coordination disorder (DCD)

DCD is a lifelong condition in which there is a delay in a child's development of gross and/or fine motor skills and postural skills, which ultimately leads to poor motor skill performance. These impairments limit the child’s ability to complete activities of daily function, everyday functional tasks, and make it difficult for children to excel in academics. Children with DCD have difficulty coordinating movements. It is common for children with DCD to be described as clumsy or awkward. Despite their difficulty with gross and fine motor movements and coordination, children with DCD are usually able to meet their motor milestones within typical age limits. The cause of DCD is unknown. The presentation of DCD varies, which makes diagnosis and treatment of the condition difficult. (12, 18, 21, 25, 26)
Research has also labeled DCD as: (12, 18, 21, 22, 25, 26)
  • Developmental dyspraxia
  • Sensory integrative dysfunction
  • Disorder of attention
  • Motor and perception (DAMP)
  • Minor coordination dysfunction
  • Minimal cerebral dysfunction

Prevalence

DCD is usually diagnosed in school-aged children from ages 5 to 15 years. DCD occurs in approximately 5% to 6% of school-age children, with DCD occurring more often in boys than girls by a 2:1 ratio. It is believed the prevalence of DCD is higher among children who were born premature, low birth weight, and/or prenatal or perinatal difficulties. (12, 18, 21, 22, 25, 26)

Diagnosis

DCD can be difficult to diagnose due to its heterogeneity. DCD diagnosis can only be made by a physician; however, physical therapists can assist in the assessment of the child's physical abilities. A child is diagnosed with DCD by meeting the following criteria: (12, 21, 22)
  • The motor impairments are negatively affecting the child's life, interfering with the child's ability to participate in age-appropriate motor tasks and activities of daily living
  • The motor impairments are not caused by any identifiable neurological, physical, or behavioral problem or other general medical conditions (i.e. cerebral palsy, muscular dystrophy, brain tumors, traumatic brain injury, etc.)
    • The child cannot have any disturbances in muscle tone, sensory loss, or involuntary movements
  • The child cannot meet criteria for diagnosis of pervasive developmental disorder (PDD)
  • If mental retardation present, the child must acquire an IQ score of greater than 70 and the motor impairments must be more severe than what is to be expected with children with mental retardation
The Alberta Children's Hospital in Calgary, Alberta, Canada developed the Developmental Coordination Disorder Questionnaire (DCDQ). The DCDQ is a standardized assessment tool that screens children specifically for DCD. The questionnaire is intended to be utilized only by the parent(s); however, some studies have supported the use of the questionnaire by educators as well. The questionnaire can be administered to children ages 5 to 15 years. Research has shown the DCDQ to have a sensitivity = 85% and specificity = 71%. (21)
Developmental Coordination Disorder Questionnaire
Resource that provides a description and characteristics of DCD, physical and occupational therapy, and intervention ideas for the home, school, and in the community: (21)

Resource for the child with DCD: (21)

Resource for school accommodations for a child with DCD: (21)

A list of recommended outside resources about DCD: (21)

Characteristics of children with DCD

Children with DCD have "difficulty learning how to plan, organize, perform, and/or modify their movements." (21) Sequencing and muscle activation are impaired causing movements to be inefficient. Children with DCD have difficulty transferring motor patterns from one activity to another or one situation to another. Problem solving on how to achieve a motor task is slower due to a lack of automatic movements and slower reaction times. It is believed that children with DCD have difficulty with error detection and processing feedback information. There is a heavy reliance on visual sensory information rather than proprioception and kinesthetic feedback, causing movement inaccuracy and lack of fluency. Children with DCD will repeat tasks the same way even if the first attempt was unsuccessful. "They have difficulty understanding the demands of the task and its component parts, interpreting environmental cues, and selecting the best motor response for a task." (12) A child may need to be instructed rather they should aim for speed or accuracy, and they may require extra time to complete motor tasks. (12, 18, 21, 22, 25, 26)
Physical Characteristics (12, 18, 21, 22, 25, 26)
  • Awkward, clumsy movements
  • Slow movements
  • Difficulty learning new motor skills
  • Difficulty with gross and/or fine motor skills
    • Inconsistent performance of skills
  • Rigid, jerky quality to movements
  • Difficulty maintaining postures
  • Increased level of co-contraction
  • Lack of fluency in movements
  • Unusual gait pattern
  • Poor balance
  • Tripping or falling
  • Unusual fixing of joints during movements
  • Difficulty with activities that require constant changes in body position (i.e. basketball)
  • Difficulty with activities that require coordination between both sides of the body (i.e. swinging a golf club)
  • Difficulty with writing
Sensory/Perceptual Disorders (12, 21, 26)
  • Difficulty with visual-spatial processing
    • Determining object size and position
    • Visual memory
  • Poor proprioception
  • Poor kinesthetic perception
Resource of DCD and motor development: (21)

Correlated Conditions

Research has shown there is a strong ‍‍‍‍‍‍association between DCD and the following conditions:
  • ADHD
    • A co-occuring diagnosis of DCD and ADHD can lead to poorer outcomes in academics and mental health than with the sole diagnosis of ADHD. (12)
  • Speech/articulation difficulties
  • Language-based difficulties
  • Learning disabilities
    • Nonverbal learning disorder
When a child is diagnosed with a one of the previous listed conditions, the likelihood the child will also have DCD is at least 50%. Understanding and addressing the impairments associated with DCD and any co-occuring disorders can help in planning physical therapy treatment interventions. (12, 18, 21, 25)

Prognosis

DCD is not progressive in nature. Research has shown it is a lifelong condition that will continue into adolescence and adulthood. Children with DCD are able to learn how to complete motor tasks in a more efficient manner, however they will continue having difficulty learning new motor tasks in the future. Therefore, early diagnosis of DCD is essential for a good prognosis. DCD can be complicated by the severity of the impairments and co-occurring disorders; however, supportive environments (i.e. home, school, and community) and a child’s coping mechanisms can offset negative outcomes. Physical therapy can provide education on DCD, treatment interventions for the impairments, and compensation techniques. (12, 18, 21, 22, 25)

Secondary Impairments

Secondary impairments may become the focus of physical therapy treatment as a child ages.
Physical Secondary Impairments (12, 21, 22, 25, 26)
  • Increased fatigue with activity
  • Decreased strength, power, and endurance
  • Spend more time away from organized play and peers
  • Engage in less vigorous play
  • Less likely to be physically fit
  • Inactive lifestyle
  • Obesity
  • Poor cardiovascular health
Social/Emotional/Behavioral Secondary Impairments (12, 21, 22, 25, 26)
  • Lack of interest in activities requiring physical abilities
  • Poor perceived competence
  • Social isolation
    • May seek out younger children to play with
  • Decreased motivation
  • Low frustration tolerance
  • Resistance to change in their routine
  • Academic and behavioral problems
    • Dissatisfied with their performance
    • Withdrawal from school and schoolwork
    • Off-task behaviors (can be linked to ADHD)
  • Higher rates of mental health problems
  • Poor self esteem
  • Anxiety
  • Depression

Activity Limitations

The activity limitations can vary between children based on the severity, however impairments can be seen in gross motor skills, fine motor skills, or both. These children often exhibit the greatest difficulty with skills that require accuracy and refined hand-eye coordination. Some common activity limitations include: (12, 18)
  • manipulating buttons, snaps, or zippers
  • tying shoe laces
  • poor handwriting, often with poor/awkward grasp - leading to increased time and assisstance to comple homework assignments
  • decreased skills with coloring, cutting, puzzles, and difficulty completeing art projects
  • decreased coordination in running, skipping, hopping, and jumping
  • difficulty in throwing, catching, kicking a ball, and swinging a bat
  • difficulty with coordinating sport skills

Participation Limitations

‍‍‍‍‍‍‍Children with DCD tend to show reduce interest in participating in activities and games that require fine and/or gross motor skills. Due to reduced coordination of movements, these children are often chosen last for games leading to poor self-esteem and increased anxiety. Decreased confidence in skills required for sport participation can cause the child to further avoid games and sports leading to inactivity and increased risk for childhood obesity. These children are 3 times more likely to be overweight than typical developing children of the same age. These factors can lead to a further decline in activity opportunities for the child, thus not exposing them to further gross and fine motor learning experiences. (18)‍‍‍‍‍‍‍

Physical Therapy Examination

Systems Review
Observation (12)
  • Direct observation of the child in their natural environment- during play in the home, classroom, playground, or physical education class.
Information from parent and teacher interview
  • description of the child’s eating habits, clumsiness patterns, and general motor development history
Muscular Examination: (12)
  • AROM/PROM- screening for muscle hypertonicity and general muscle tone of gross muscle groups in UE and LE
  • Functional strength testing
Evaluation of Motor Function: (12, 21)
  • Standardized motor assessment: no current gold standard for this population
  • Need to assess gross/fine motor development as well as coordination of movement
  • For young children, the Peabody (PDMS-2) can be used
  • For older children, the Movement Assessment battery for Children (MABC) or the Ruininks-Oseretsky Test of Motor Proficiecy (BOTMP) can be used
  • Identifying deficits in motor development are key for a diagnosis of DCD

PT Interventions
Treatment for this patient population was initially a ‘bottom-up’ approach, where treatments were designed to treat impairments. More recent treatments have shifted to a ‘top-down’ approach, where interventions are based more on functional tasks. (12, 20) However, with the variability among children's symptoms with DCD there is no one treatment approach that can be used for every child. The child's indiviual impairments must be addressed. (22)
  • Facilitation of gross motor skills through play
  • task specific training (20):
    • verbal cues, visual cues, or physical assistance can be provided to help the child learn how the proper movement should feel for certain tasks they show difficulty with
    • improve efficieny of movement and increase coordination
    • frequent practice, practice in a variety of settings, anc consistent feedback can be used to improve motor learning (20)
  • improve the child's self-efficacy with daily skills and tasks (12)
  • Family and teacher education
  • modify and adapt academic and physical activity so that motor performance is not the primary focus. This helps to alleviate frustrations and anxiety that the child may experience if they are having difficulty with the task/skill. Activities such as tag or hide and go seek are examples of games that don't specifically rely on motor skill accuracy and performance (12)
  • encouragement for child to partcipate in physical education classes and organized sports. - can help promote self-esteem, gross motor developement, and social interaction skills
  • recommend that the child participate in lifetime sport activities that require less fine motor skill and utilize larger muscle groups with repetitive movements. ex: swimming, cycling, running, and skiing. (21)




DCD and the transition to adulthood
DCD is a lifelong disability and therefore deficits continue into adolesence and adulthood. Although children can make improvements in their fine and gross motor skills with treatment interventions, often these children will remain behind their peers throughout childhood and as adults as well (24). Adults will continue to exhibit decreased motor coordination and further avoidance of sport and recreational physical activity can continue. Therefore, contiinued encouragement to participate in lifelong leisure activities is of high importance to maintain good physical health (12). New challenges present as the child transitions into adolesence and starts high school. The child will have an increased risk for social isolation, depression, and anxiety as the social demands and independence with activities and scool work increase (24). Other potential challenges include learning to drive a car, and seeking out employment (12). Choosing a career where the person will be able to achieve success is important in maintaining a high quality of life and decreasing the risk of depression. Jobs that do not require high fine motor skill and have stable environments tend to lead to more successful outcomes for these individuals. (12)


Resource for coaches and PE teachers who identify a child who is clumsy or has difficulty during sport and physical activities (21):

Resource for parents providing activites and sports that children with DCD can be successful at, ideas to promote physical activity through different ages: (21)

Resource on physical therapy and DCD: (21)



Autism

Picutre uploaded from http://www.wired.com/geekdad/2011/04/pbs-newshour-starts-a-6-part-series-on-autism-tonight/
Picutre uploaded from http://www.wired.com/geekdad/2011/04/pbs-newshour-starts-a-6-part-series-on-autism-tonight/


Quick Facts on Autism:
  • Estimated that 1 in 88 children have autism spectrum disorders (ASDs) (15)
  • There are three types of ASDs: Autistic Disorder, Asperger's Syndrome, and Pervasive Developmental Disorder-Not otherwise specified (15)
  • Diagnosis is based on a child's behavior and development. There are no medical tests for the diagnosis of ASDs (15)
  • ASDs are five times more common in boys than girls (15)

Autism is a developmental disorder of the brain that appears in first 3 years of life which affects the normal development of social and communication skills. Autism cannot be definitively diagnosed until 18 to 24 months, but children 8 to 12 months old may exhibit early signs. In most cases a combination of abnormal genes and environmental factors result in autism that delays early brain development. Brain scans show a difference in brain structure and function in children with autism compared to typically developing children. Quick explanations of the connections of both genetic and environmental factors are as follows:
  • Genetic Vulnerability: individuals who have certain conditions, such as fragile X syndrome and congenital rubella, tend to have higher incidence of ASDs. (16)
  • Environmental factors: the increase in the number of people with ASDs may have a decreased ability to metabolize and detoxify exposures to environmental toxins (such as heavy metals like mercury) which are more prevalent now than they were in the past. (16)

Common Characteristics of Children with Autism (12)
  • Motor development:
    • Impaired performance of skilled motor tasks and gestures (most common motor finding)
    • Delayed gross and fine motor development; rate of development often slows at age 2 to 3 years
    • Poor balance and coordination
    • Unusual gait patterns, such as toe-walking
    • Delayed learning of complex motor skills, such as tricycle riding

  • Communication and Social Development:
    • Deficits in joint attention (coordinating attention between people and objects)
    • Difficulty learning conventional or shared meaning for symbols, such as conventional gestures, conventional meaning for a word, and pretend play
    • Some have limited ability to use speech for communication; most who can speak go through a period of echolalia

  • Other:
    • Unusual responses to sensory input
    • Attention deficits and hyperactivity
    • Oral-motor problems, feeding problems, and limited food preferences
    • Sleep disturbances, particularly of sleep-wake cycles
(More exhaustive list contained in Box 17-2 in chapter 17 of Physical Therapy for Children, 4th edition)

Autism Spectrum Disorders


Autism spectrum disorders such as autistic disorder and asperger syndrome vary in degrees based on social interaction, verbal and nonverbal communication and repetitive behaviors. Symptoms affect communication, language, motor skills, speech, success at school, and thinking abilities.

Signs of autistic disorders:
  • no big smiles or other warm, joyful expressions by six months or thereafter
  • no back-and-forth sharing of sounds, smiles or other facial expressions by nine months
  • no babbling by 12 months
  • no back-and-forth gestures such as pointing, showing, reaching or waving by 12 months
  • no words by 16 months
  • no meaningful, two-word phrases by 24 months
  • any loss of speech, babbling or social skills at any age

Asperger's Syndrome



Asperger's syndrome is another condition falling within the autism spectrum. People with Asperger's syndrome typically have milder symptoms than people with Autistic Disorder. The key difference between this syndrome and Autistic Disorder is that people with Asperger's show no language delays. (16)

Common Characteristics:
  • Limited or inappropriate social interactions (17)
  • Challenges with non-verbal communication coupled with average to above average verbal skills (17)
  • Lack of eye contact or reciprocal conversation (17)
  • One sided conversations (17)
  • Obsession with specific, often unusual topics (17)
  • Awkward movements/mannerisms (17)

Testing for ASD's

Many standardized tests can be used to aid in the diagnosis of ASDs. The CDC recommends all children be given developmental delay screenings at 9, 18, and 24 or 30 months. The CDC also recommends children specifically be tested for ASDs at 18 and 24 months.(20) Generally a developmental pediatric doctor, neurologist, psychologist, or psychiatrist will diagnose a child who has an ASD. Some of the tests used for diagnosis are included in the following:

  • Bruininks-Osteretsky Test of Motor Proficiency (BOT-2) (4-14.5 years of age) (12)
  • PDMS-2 screening tool
  • Bayley III screening tool
  • Rapid ABC (see link below)
  • M-CHAT





PT Interventions


Early identification and intervention is critical for this population. Currently, there is no research for "best practice" treatments for this population. PT treatments for this population will most likely include treatments for the following components:
  • Treatment of developmental delays
  • Postural strength deficits
  • Apraxia
  • Coordination
  • Motor Learning
  • Sensory integration
  • Dyspraxia

Research has also shown that children who perform short bouts of physical activity (15 minutes of running) perform better in the classroom. This is important knowledge for a school based physical therapist in designing treatment plans for this population.

All of the above information can be referenced in the following articles:



Other treatment ideas include:
  • Hippotherapy (27)
  • Aquatic Therapy (27)

Autism and Vaccines


Many parents may express fears of a connection between childhood vaccines and autism. The following PDF is a great resource from the CDC with a comprehensive list of research articles showing there are no increased risks of autism with childhood vaccinations. Because of our role on the health care team, it is important that we are able to educate parents on this topic.




Resources for parents:

http://nationalautismassociation.org/
www.autismspeaks.org
http://www.poac.net/









Case summary

References

1. What is Down Syndrome.National Down Syndrome Society. Website: http://www.ndss.org/Down-Syndrome/What-Is-Down-Syndrome/. Accessed October 26, 2012.
2. Facts About Down Syndrome.Nation Association for Down Syndrome. Website: http://www.nads.org/pages_new/facts.html. Accessed October 26,2012.
3.Barnhart, Robert C. and Connolly, Barbara. Aging and Down syndrome: Implications for physical therapy. Physical Therapy. October 2007: 87(10):1299-1406.
4. Down Syndrome: Tests and Diagnosis. Mayo Clinic. Website: http://www.nads.org/pages_new/facts.html. Accessed October 26,2012.
5. Winders, Patricia C. Gross Motor Skills in Children with Down Syndrome: A Guide for Parents and Professionals. Bethesda, MD: Woodbine House; 1997: 227-228.
6. Ulrich et al. Effects of intensity of treadmill training on developmental outcomes and stepping in infants with Down syndrome: A randomized trial. Physical Therapy. January 2008: 88(1):114-122.
7.Jianhua et al. Effects of various treadmill interventions on the development of joint kinematics in infants with Down syndrome. Physical Therapy. September 2010: 90(9):1265-1276.
8. Kaplan, P., Wang, P., & Francke, U. (2001). Williams (Williams Beuren) syndrome: a distinct neurobehavioral disorder. Journal of Child Neurology, 16(3),177-190.
9.Del Pasqua, A., Rinelli, G., Toscano, A., Iacobelli, R., Digilio, C., Marino, B., Saffirio, C., Mondillo, S., & et al. (2009). New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome. Cardiology in the Young,19, 563-567.
10.Morris, C. (2006). Williams syndrome. Gene Reviews. Seattle: University of Washington.
11. Tsai, S., Wu, S., Liou, Y., & Shu, S. (2008). Early development in Williams syndrome. Pediatrics International, 50, 220-224.
12. Campbell, S., Palisano, R., & Orlin, M. (2012). Physical Therapy for Children (4th ed.). St. Louis: Elsevier Saunders.
13. O'Keefe, J. (2012). E-2 Genomics and genetic syndromes affecting movement. Physical Therapy for Children (4th ed., pp. 1-74). St. Louis: Elsevier Saunders.
14. Lewis, C. (2000). Prader-willi syndrome: a review for pediatric physical therapists. Pediatric Physical Therapy, 12, 87-95.
15. Centers for Disease Control and Prevention Autism Spectrum Disorders (ASDs). Website: http://www.cdc.gov/NCBDDD/autism/facts.html
16. Learn about Autism. The Autism Society. http://www.autism-society.org/about-autism Accessed October 28th, 2012.
17. What is Autism>>Asperger's Syndrome. Autism Speaks. http://www.autismspeaks.org/what-autism/asperger-syndrome
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19. Looper et al. What to measure when determining orthotic needs in children with down syndrome: A pilot study. Pediatric Physical Therapy. 2009, 24(4): 313-319.
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21. "Welcome." CanChild. McMaster University, n.d. Web. 28 Oct. 2012. <http://dcd.canchild.ca/en/>.
22. "Developmental Coordination Disorder." Developmental Coordination Disorder- What Is It & What Are The Signs. N.p., 3 Aug. 2011. Web. 29 Oct. 2012. <http://www.autismunited.org/blog/developmental-coordination-disorder-80530.html>.
23. Autism Spectrum Disorders page. Centers for Disease Control. http://www.cdc.gov/ncbddd/autism/screening.html
24. Developmental Coordination Disorder. Dyspraxia/DCD Association, n.d. Web. 29 Oct. 2012. <www.dyspraxiadcdccork.ie/html/resources>.
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26. "Supporting Children, Families and Adults with Dyspraxia." Dyspraxia Foundation. Dyspraxia Foundation, 1996. Web. 29 Oct. 2012. <http://www.dyspraxiafoundation.org.uk/services/dys_dyspraxia.php>.
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