Down Syndrome Notes PDF

Slide Deck 2.4: Down Syndrome Condition Common chromosomal abnormality Presence of full or partial extra copies of the genes on chromosome 21 aka trisomy 21/down syndrome Most common cause of intellectual disability in US / cognitive delay Reduced brain volume / reduction in cerebellum Increased ris...

Slide Deck 2.4: Down Syndrome Condition Common chromosomal abnormality Presence of full or partial extra copies of the genes on chromosome 21 aka trisomy 21/down syndrome Most common cause of intellectual disability in US / cognitive delay Reduced brain volume / reduction in cerebellum Increased risk of abnormality in almost every organ system Gross motor delays resulting from hypotonia, ligamentous laxity, reduced brain volume Presentation Muscle hypotonia, joint laxity (AAI) Foot deformities Intellectual disability Flattened nasal bridge Short limbs Almond eye shape Flat occiput Simian line (1 transverse line in palm) High arched palate Protruding, fissured tongue Smaller convolutions in the brain Abnormal structures of the brain Congenital heart disease/ lung hypoplasia with pulmonary HTN Developmental delay Early onset Alzheimer’s Inner epicanthal folds / skin fold over up eye covering inner corner Etiology Presence of full or partial extra copies of the genes on chromosome 21 Classification o Trisomy: 95% of cases; extra copy chromosome 21 most common, error in mitosis 1 o Translocation: attachment of long arm of extra chromosome 21 to chromosome 14, 21, or 22 4-5% o Mosaic: nondisjunction error during mitosis, resulting in some but not all genes having the error and resultant increased expression 1-2% Incidence: increases as maternal age increases 6,000 w/ DS, 20 y/o 1 in 1000 chance, 40 y/o 1 in 100 Impairments Global delays Delayed in achieving gross motor milestones Obesity Poor fitness Intellectual disability Deficits in expressive language Verbal short-term memory Musculoskeletal o Hypotonia o Ligamentous laxity → joint hypermobility Neurological o Reduced brain volume decreased cerebellum size = posture/balance problems o Smaller frontal and temporal areas o Smaller cerebellum-critical for postural control and balance o Smaller hippocampus-critical for long-term memory Severity Classification Mild Moderate Severe -Movement patterns similar to those of children without DS at a similar stage of motor development -Sufficient muscle tone, strength, and voluntary control to initiate, adapt, and sustain movements during play -Able to initiate, adapt, and sustain movements during play, but movement patterns less efficient than those of children without DS -Movements characterized by excessive motion in some weight-bearing joints, a wide BOS, reduced balance, compensatory movements when muscle tone and strength not adequate to meet demands of a task -Difficulty initiating, adapting, and sustaining movements during play Frequency of movement and physical endurance may be limited -Movement patterns inefficient and characterized by compensations that reflect low muscle tone, reduced strength, and limitations in voluntary control of movement Associated Conditions can be present from child to adulthood Cognitive impairment/intellectual disability Congenital heart defects Gastrointestinal tract anomalies Thyroid dysfunction Diabetes mellitus Leukemia Osteopenia/osteoporosis Respiratory disorders Skin disorders Seizures Obstructive sleep apnea Behavioral/mental health issues Hearing impairment Visual impairment Summary Definition Genetic disorder in 90% of cases (extra 21st chromosome) Alterations in Body Functions and Structures Potential Activity Limitations and Participation Restrictions -Generalized low muscle tone -Muscle weakness -Slow postural reactions -Joint laxity -Intellectual impairments -Delay of developmental milestones -Decreased ability to maintain sustained active play with peers or family -Decreased participation in organized sports and active recreation activities put them in adaptive sports! Summary Presence of full or partial extra copies of the genes on chromosome 21 Global delays Low muscle tone Intellectual disability Potential Management -Surgery to correct any congenital heart defects -Physical therapy intervention initially focuses on attainment of developmental milestones, family education related to developmental activities, motor learning principles of changing environment -Lifelong focus on fitness 90%