Down syndrome
Down syndrome is associated with third chromosome 21, diagnosis is made by chromosome analysis (Roizen 2003)
- it is the most common cause of intellectual disability (Rosso et al, 2020)
- wide range of functioning in all areas of development, IQ decreases in first decade of life, in adolescent years cognitive function plateaus.
- cognitive domain of language production can be especially impaired. (Roizen 2003)
- treatment considerations may include vigilance for disorders that occur in greater frequency in the Down’s population: (Roizen 2003)
- hypothyroidism
- obstructive sleep apnea due to midfacial hypoplasia
- seizure disorder (bimodal age of onset in early childhood and third decade of life)
- leukemia
- Celiac disease
- signs and symptoms of Alzheimer’s disease are apparent in 75% of Down syndrome patients over 60 years of age
- possibly related to APP gene overexpression, which is located on chromosome 21 (Roizen 2003)
Down syndrome disintegrative disorder: subacute onset including autistic-like regression, language regression and mutism, mood lability, insomnia, social withdrawal and decreased participation in ADL’s, and/or catatonia (Rosso et al, 2020)
- Unknown etiology, considerations include stress / psychiatric disease or autoimmunity(higher rates of anti-TPO antibodies, though steroid treatment reveals no benefit) (Rosso et al, 2020)
- May or may not return to baseline functioning (Rosso et al, 2020
- Interventions have included SSRIs, antipsychotics, and cholinergic drugs (donepezil, rivastigmine) 70
- If catatonia is present, trial of high dose benzodiazepines or ECT has been effective (Rosso et al, 2020)
References
Roizen, N. J. & Patterson, D. Down’s syndrome. Lancet Lond. Engl. 361, 1281–1289 (2003). PubMed link
Rosso, M. et al. Down Syndrome Disintegrative Disorder: A Clinical Regression Syndrome of Increasing Importance. Pediatrics 145, e20192939 (2020). PubMed link