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Neurodevelopmental Aspects of Down Syndrome

Neurodevelopmental Aspects of Down Syndrome. Janice Palumbos, MS Genetic Counselor University of Utah. Down Syndrome. Commonest identifiable genetic cause of mental retardation: 1in 600 at age 20, 1 in 375 at age 35 Diagnostic testing essential :

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Neurodevelopmental Aspects of Down Syndrome

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  1. Neurodevelopmental Aspects of Down Syndrome Janice Palumbos, MS Genetic Counselor University of Utah

  2. Down Syndrome • Commonest identifiable genetic cause of mental retardation: • 1in 600 at age 20, 1 in 375 at age 35 • Diagnostic testing essential : • Differential – Smith-Magenis, Zellweger syndromes, hypothyroid, BWS • Survival is less than general population at all ages

  3. Clinical Findings • Congenital heart defects - AV canal, PDA • Gastrointestinal problems - duodenal atresia, annular pancreas, Hirschsprungs • Hypotonia • Dental, hearing, vision problems • Thyroid, diabetes • Joint laxity • Malignancies • Sleep: obstructive sleep apnea • Skin

  4. Health Supervision for Children with Down Syndrome • Medical Evaluation • Routine: • echocardiogram as newborn • hearing screening, annually • ophthalmologist by 6 months; every 2 years • thyroid screening annually • radiographs neck, 3-5 years • AMERICAN ACADEMY OF PEDIATRICS:Health Supervision for Children With Down Syndrome • Committee on Genetics PEDIATRICS Vol. 107 No. 2 February 2001, pp. 442-449 • http://aappolicy.aappublications.org/cgi/content/full/pediatrics;107/2/442

  5. Development and Behavior • Global developmental delay, variable degrees • Average child with DS functions about half of age level • Motor: ~ twice as long as average to achieve milestones– 96% walk by 36 months • Specific defect in identifying familiar faces and facial expression of emotion • Temperament more muted than if no DS

  6. Hypotonia • Reduced muscle tone, increased range of joints, motor function problems • Throughout life; improvement with maturity • Guidance by physical therapy;early intervention;adapted physical education

  7. Hearing concerns • Serious otitis media, small canals, mostly conductive impairment • Check by 6 months; review regularly in early years • Up to 50% at some times, 10% sensorineural • Audiology, tympanometry, ENT consultation

  8. Development and Behavior Language: • Early – similar to others of similar mental age • By school age: lack of correlation between production and comprehension • Vocalization and grammatical use falls in those >10 y

  9. Development and Behavior Sensorimotor: • Asynchrony, less permanence to acquisition of new abilities • More restricted play • Stereotypic and repetitive behaviors

  10. Development and Behavior • Stereotype: • Good, happy, affectionate, outgoing • But • 25-33% have significant emotional &/or conduct problems • Age-related increase in anxiety, depression and withdrawal • Greater stubbornness, speech problems, disobedience than others with equivalent DD • Less impulsiveness and hyperactivity

  11. Development and Behavior • Fewer psychoses, neuroses, conduct disorder • More depression – up to 10% in one study esp in young adults • Self-talk is not pathological • Seizures

  12. Development and Behavior • More normal tone and no major malformations - better predictive value for success • Mean IQ <50, range to 70 • Overall IQ is a poor measure of the spectrum of abilities • Trend for IQ to decline with age • All get Alzheimer plaques by 35-40 years • Seizures in ~10%

  13. Integration • Prospects for independent living are in flux • No generation of individuals with DS has been fully integrated • Still often dependent in some daily skills • Meaningful employment is still a challenge for most people with DS – • 10 years ago: • 10% in work placements • 5% in paying jobs

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