Abstract
Adolescents and young adults with Down syndrome (DS) can present a rapid regression with loss of independence and daily skills. Causes of regression are unknown and treatment is most of the time symptomatic. We did a retrospective cohort study of regression cases: patients were born between 1959 and 2000, and were followed from 1984 to now. We found 30 DS patients aged 11 to 30 years old with history of regression. Regression occurred regardless of the cognitive level (severe, moderate, or mild intellectual disability (ID)). Patients presented psychiatric symptoms (catatonia, depression, delusions, stereotypies, etc.), partial or total loss of independence in activities of daily living (dressing, toilet, meals, and continence), language impairment (silence, whispered voice, etc.), and loss of academic skills. All patients experienced severe emotional stress prior to regression, which may be considered the trigger. Partial or total recovery was observed for about 50% of them. In our cohort, girls were more frequently affected than boys (64%). Neurobiological hypotheses are discussed as well as preventative and therapeutic approaches.
Highlights
Down Syndrome (DS), which is caused by trisomy of chromosome 21, is the first cause of intellectual disability of genetic origin (1/700 births [1]) and is responsible for multiple congenital malformations and medical complications throughout a person’s lifespan
The frequency and repartition of congenital malformation are consistent with previous studies [5]: congenital heart disease (CHD) was the more frequent congenital defect, followed by digestive system anomaly
Thirty percent of the subjects had a thyroid disorder at the time of regression, but 53% of all patients had a history of thyroid disorder in their life
Summary
Down Syndrome (DS), which is caused by trisomy of chromosome 21, is the first cause of intellectual disability of genetic origin (1/700 births [1]) and is responsible for multiple congenital malformations and medical complications throughout a person’s lifespan. The second challenge is to treat complications that can worsen disability and can occur at any age (West syndrome, sleep apnea, epilepsy, Alzheimer’s disease, etc.). Some adolescents and young adults with DS have been described as having rapid cognitive deterioration. This regression is characterized by a loss of autonomy and daily skills, reduced speech, and psychomotor activity. Isolated cases have been reported in the literature since 2011 with various designations [2], including “Down syndrome disintegrative disorder“ [3], “New-Onset
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