Acute regression in young people with Down Syndrome

Objective: To study the acute regression in young people with Down Syndrome (DS) Methods: We did a retrospective study of DS patients who presented an acute regression in our center from 1984 to 2016. Inclusion criteria were: ages from 10–30 years, significant and acute loss of activities of daily living and baseline skills within 6 months, perceived decline in cognition and significant loss of speech, unexplained decompensation in behavioral functioning and mood, no history of autism spectrum disorder, seizure disorder or significant psychopathology. Results: We found 30 DS patients aged 10–22 years with more girls (58%) than boys. Regression occured regardless of the level of intellectual disability (mild, moderate and severe).The acute regression was characterized by a marked loss of activity with psychiatric symptoms in all cases (catatonia, depression, delusions, stereotypies, etc...) with partial or total loss of independence in activities of daily living (dressing, toilet, meals and continence), language impairment (silence, whispered voice, etc;) sleep disturbance and loss of academic skills. A medical evaluation, laboratory testing and research of comorbidities were down in most of patients without finding a cause except than all patients experienced severe emotional stress prior to regression. Partial or total recovery was observed in one third of them with different types of treatment. Conclusion: This retrospective study highlights the challenges involved in diagnosting, evaluating and treating patients with DS who have experienced this acute and unexplained clinical deterioration. Neurobiological and genetics hypothesis are discussed as well as therapeutic approach. European collaboration among healthcare providers is necessary to improving outcomes of these patients.