Down Syndrome
Physical Features of Down Syndrome
Hypotonia, small head, epicanthal folds (eyelids), and flat nasal bridge, brushfield spots (white sports on iris), short 5th finger with clindodactyl (webbing) and wide spacing, deep plantar groove between first and second toes
Definition and Causes of Spina Bifida
Definition: incomplete closure of =lower segments of the spine
Causes: nutritional deficiencies (lack of folic acid), teratogens (alcohol, valproic acid, drug abuse), genetics (often associated with chromosomal abnormalities
Types of Nerve Injury and Classifications
Neurotmesis: complete rupture, NO or limited recovery
Axonotmesis: Axon disrupted, sheath intact, regrowth 1 mm/day
Neurapraxia: stretch injury with intact axon and sheath, full recovery
Type 1/Erb's Palsy: C5-C6 -- weakness/paralysis of levator scap, rhomboids, delts, serratus anterior, supraspinatus, infraspinatus, biceps, brachioradialis, forearm supinators/extensors, fingers, and thumb
Type 2/Extended Erb's Palsy: C5, C6, C7 -- similar to type 1 but also involves elbow, wrist, and finger extension impairments
Type 3/Global Palsy: C5-T1 -- mixed presentation, might involve Horner's Syndrome (one-sided: constricted pupil (miosis), drooping eyelid (ptosis), and reduced sweating (anhidrosis), flaccid paralysis
Type 4/Klumpke Palsy: C8-T1 -- definitely involves Horner's Syndrome, distal weakness/paralysis of wrist/finger flexors and extensors, and intrinsic muscles of hand (may include entire brachial plexus)
Early Signs of Autism
Eye contact
Joint Attention (1 year-18 months) -- sharing enjoyment
Responding to their name
Limited gestures
Dual tasks are challenging
Imitation is limited
Repetitive movements/interests
Social/communication challenges
Diagnosis and Etiology
Diagnosis: Motor performance deficits, Appears in early childhood, Participation and ADL deficits, No exclusionary conditions
Etiology: Prevalence 5-6%, 2-3x more likely in boys, possible involvement of cerebellum
Risk Factors: Prematurity and coexisting disorders
Hypotonia
low muscle tone -- decreased ability to generate voluntary muscle force
Types
Spina Bifida Occulta: tuft of hair/indent you don't really see
Spina Bifida with Meningocele: NOT protruding through skin
Spina Bifida with Meningomyocele: Protruding with sac
Spina Bifida with Myeloschisis: Most involved; open with NO sac, spinal cord
Active Movement Scale: children < 1 year old
Mallet Scale: children 3-4 years old
MMT/Dynamometry: As young as 3-4 years old
FLACC and Faces for pain
Severity Levels of ASD
Level 1 -- Requiring Support: Average Traits: Awkward, NOT disabled, often lonely, but can build relationships with non-autistic peers, prefer routine, fidgeting
Level 2 -- Requiring Substantial Support: Average Traits: People notice disability, social life limited or non-existent, change is hard, repetitive behaviors noticeably unusual, significant developmental delays, will meet milestones late
Level 3 -- Requiring Very Substantial Support: Average Traits: one-on-one support, disability is very obvious, usually only communicate to express needs or answer questions, change is unbearably difficult, intense repetitive behavior is calming and important for them, large developmental delays, may NOT meet every milestone
Common Presentation
Difficulty with planning and organizing a motor task and adjusting to changes in movement
Approach to learning is random/ disorganized
More facial reactions --> effortful
Interventions to Treat Hypotonia
Massage, orthotics to improve alignment, treadmill training (for children with DS)
(Do NOT use orthotics BEFORE independent walking)
Presentation of Spina Bifida
LE paraplegia
UE weakness due to progressive neurologic dysfunction
Muscle tone may be mixed presentation (flaccid, normal, spastic)
What to Monitor During Childhood
Close monitoring of PROM
Rheab following orthopedic reconstruction
Bimanual Training
CIMT (constraint-induced movement therapy)
K Tape for scap stabilization
NMES
Coexisting Conditions
ADHD
Communication Disorders
Epilepsy
Intellectual Disability
Learning Disability
GI disorders
Motor Planning Disorders
Obesity
Psychiatric Disorders
Sensory Processing Disorders
Sleep Disorders
Toe Walking
Presentation in Older Kids
Likelihood of poor fitness and obesity
Likelihood of anxiety/depression
Lower ratings of QOL
Lower likelihood of employment/job satisfaction
Comorbidities of Down Syndrome
Neurological: cognitive disability, language delays (receptive > expressive), psychiatric conditions (Autism/ADHD), vision/hearing impairments, seizure disorders
Musculoskeletal: hypotonia, ligamentous laxity, juvenile idiopathic arthritis, atlantoaxial instability (somersaults very risky)
Cardiopulmonary: congenital heart defects (septal common)
Gastrointestinal
Integumentary: Skin
Endocrine: hypothyroidism
Leukemia
Associated Conditions -- RED FLAGS
Tethered Cord Syndrome: loss of sensation, strength, gait abnormalities, function from baseline --> refer for surgery --> back pain, leg weakness/numbness, foot deformities
Chiari Shunt Malformation: brain presses into spinal canal --> headache, neck pain, difficulty swallowing, vision changes, balance/walking problems, hearing problems, etc
Medical Management
Microsurgery (between 3-9 months old; earlier = better) -- nerve transfers, nerve grafting, neuroma dissection/removal, neurolysis, anastomosis of nerve endings
PT post-op management -- ROM, muscle activation, NMES, functional mobility (CIMT)
Orthopedic surgery: Goal --> PROM and AROM for ADLs (tendon transfers, tendon lengthening, osteotomies)
Potential Motor Challenges
Gross Motor Delay
Motor Planning
Coordination
Postural Control
Gait (toe-walking
Gold Standard Outcome Measure for DCD
Movement Assessment Battery for Children-2 (MABC-2)
Gross Motor Expectations for kids with Down Syndrome
Rolling: 6 months
Sitting: 12 months
Crawling: 24 months
Standing: 24 months
Walking: 30 months
Running: 72 months
Climbing Steps: 72 months
Jumping Forward: 60 months
Function at Different Spinal Levels
Thoracic: No volitional LE movement -- may use parapodium for exercise bouts, wheelchair for all functional mobility
High Lumbar (L1-L2): Weak hip flexion, short-distance household ambulation with KAFO/RGO, wheelchair for community mobility
L3: Strong hip flexion and adduction, weak hip rotation, antigravity knee extension, household/short-distance community ambulation with KAFO/Lofstrands, wheelchair for longer community distances
L4: Antigravity knee flexion and grade 3-4 DF with inversion, medial hamstring, knee extension, functional ambulation with AFO/Lofstrands, wheelchair for longer distances
L5: Lateral hamstrings intact, some glutes, posterior tib, good knee flexion, weak hip extension and abduction, weak plantarflexion, ambulate without orthoses, but usually use them for foot positioning and push-off, UE support with Lofstrand
S1: May have PF and hip extension of grade 2 or 3, ambulate without orthoses, no UE support
S2-S3: PF at least grade 3, glutes grade 4, still have decreased push off and decreased stride length when running, bowel and bladder function is normal and Le strength is normal
Interventions for Infancy
Support sensory and motor recovery, optimize comfort, promote development, prevent secondary complications
PROM of cervical spine
Therapeutic play
Positioning/splinting to prevent contractures
What Strategies a PT Should Use to Improve Success
Task Analysis
Visual Supports
Sensory Supports
Self-Determination
Encouragement
Interventions to Treat DCD
Task-specific
Body structure and function
Small group or individual sessions
Supplementary activities
Exercise and home activity programs