Down Syndrome: Characteristics and Treatment

Down Syndrome

• Caused by a full or partial copy of chromosome 21
• Can also be caused by Trisomy 21 or Mosaicism
• Diagnosed via prenatal blood work, ultrasounds, chorionic villus sampling or amniocentesis
• Good outcomes are possible with interventions
• Characteristics: flattened facial features, small head, short neck, small mouth, protruding tongue, upward slanted eyes, small ears, broad short hands with single palmar crease
• Potential comorbidities include: obesity, cataracts, respiratory conditions, septal defects, hearing impairments, thyroid conditions, and leukemia
• Clinical findings: excessive hypotonia, ligamentous laxity, hyper-flexibility, poor oral control (drooling), fixing or stacking wide base of support, decreased desire to bear weight or poor strength, decreased body awareness, cognitive and communication delays
• Use core control and heavy work (push/pull) for core stability
• Treatment: weight bearing and foot orienting, strengthening through developmental positioning, treadmill training for gait, devices like Theratogs, aquatic/hippotherapy, and progressing motor skills ASAP
• During the exam/evaluation kids will take twice as long to hit milestones
• MMT not reliable until 3 years old
• To detect hypermobility use the Beighton Score

Cri-Du-Chat Syndrome

• Caused by a deletion on the 5th chromosome
• LBW is associated with this
• Can be either paternal or maternal
• Characterized by failure to thrive, low IQ, sound sensitivity and/or chronic sleep problems
• Microcephaly, downward sloping palebral fissures, broad nasal bridge
• Hypotonia and delayed skills
• Hallmark cry
• Refer to the ER
• Consider neuro screening to rule out other diagnosis’
• Note if the person has a Cardiac history

Prader-Willi Syndrome

• Inherited from the father
• Diminished fetal activity
• Respitory/feeding difficulty
• Low to normal intelligence
• Small genatalia
• Short stature
• Small hands/feet
• Excessive eating and insatiable appetite
• Individuals with Prader-Willi have Hypotonia, global motor delays, ambulation at age 2 and scoliosis

Angelman Syndrome

• Inherited from the mother
• Individuals typically smile
• Severe learning difficulties and seizures, can often be the cause of death
• Poor sleep
• Frequent/inappropriate laughter
• Lip smacking and hand flapping
• Ataxia
• Potential of coordination difficulties

William’s Syndrome

• Deletion on the long arm of chromosome 7
• Cardiovascular disease is common due to elastin
• GI issues common
• Potential of Radioulnar synostosis
• Poor vision common

Neurofibromatosis

• Neurofibromin affected, leading to tumor growth in the CNS, optic nerve or peripheral nerve sheath or skeleton may be present
• Can be Type 1 or 2
• Type 2 leads to decreased life expectancy
• Can cause verbal/learning or visual spatial skill difficulties
• Dependent on tumor location and severity
• Café au lait spots
• Individuals are often described as “Elf like”
• Learning disabilites and ADHD
• Quite musical and talkative
• Hypotonia
• Joint Laxity
• Tactile sensitivity

Fragile X Syndrome

• X linked dominant
• Elongated face
• Large ears
• Prominent mandible
• Decreased motor performance
• Hypotonia
• Joint hypermobility
• Delayed millstones
• Autism

Rett Syndrome

• Progressive neurodevelopment disorder
• Life expectancy to middle age
• Typical development until 6-18 mos
• Finger biting and sucking
• Tremors or seizures
• Rapid regression in motor skills
• Ataxia and gait abnormalities
• Kyphoscoliosis and osteoporosis
• Agressvive PT is needed to pereserve function

Ehlers-Danlos Syndrome

• Inherited disorder
• Excessive hypermobility/instability
• Skin hyperextensibility and skin fragility
• Frequent bruising
• Potential of cardiac/systemic involvement
• Potential of pain
• Loss of purposeful hand skills with hand wringing
• Blood pressure changes with vascular
• Hypermobility and instability treatment incldues: exercise for pain reduction and stability, education for posture, modalities, gentle stretching only within safe ranges, braces (Avascular type requires lower intenstiy exercise)

Overall Treatment Considerations

• Low tone and hypermobility is common across conditions
• Improve strength and stability, maintain ROM, posture, and alignment
• Maintain or progress motor skills and functional ability
• Body awareness activities
• Keep tasks simple, functional, and purposeful
• Modify tasks as needed
• Consider orthotics around 5 years old if there is a pathological pes planus (or when they want to bear weight)