Diagnosis and Treatment of Down Syndrome Disintegrative Disorder in an Inpatient Setting

Dalton Bourke, MD

Boston Children’s Hospital – Fellow
Bourke_Dalton poster

Scientific Abstract

Background: Down Syndrome Disintegrative Disorder (DSDD) is a condition of increasing importance and recognition that has largely remained under characterized with less than 200 documented cases. DSDD is a clinical entity characterized by developmental regression in individuals with Down Syndrome (DS) that includes a loss of previously acquired adaptive, cognitive, language, behavioral, and social functioning  that is post pubertal in onset. DSDD has a subacute onset and can include symptoms such as: Autistic-like regression, Mood symptoms, Language regression, and Catatonia.  The acute phase can last six months, followed by the chronic phase. In the chronic phase, previous skills may not be completely recovered and rarely show complete recovery to baseline with total or partial recovery occurring in 58%, stabilization in 35%, and further worsening seen in 7.5%.2 

Methods: We present a case of DSDD who presented with symptoms of Catatonia and their response to the lower than recommended dose of lorazepam.

Results:  We present a case of a 15 y/o Somali American female with a history of Trisomy 21 (Down Syndrome), hypothyroidism, obesity, PDA s/p corrective surgery, Vitamin D deficiency, irregular menstrual cycle, hypoplasia of the optic nerve presented to BCH in February 2021 with 3wks of regression – the subacute onset of altered mental status and behavioral changes including social withdrawal, giving brief responses, responding to internal stimuli, staring for extended periods of time, lack of focus in school, inattentive to ADLs, decreased food intake, and dysregulated sleep. Workup demonstrated possible encephalitis/cerebritis with a positive autoimmune panel. After starting immunological and psychiatric therapy, patient improved and was discharged home. She then re-presented with catatonic symptoms and was trialed on lorazepam with successful treatment at doses lower than typical treatment for catatonia.

Conclusions: This case highlights several important considerations about the diagnosis and management of DSDD. Symptoms can be attributed to other pathology and these individuals often have several underlying comorbidities that can cloud the diagnostic process, delay treatment, and reduce quality of life. The Bush-Francis rating scale was helpful to objectively categorize and monitor treatment response in this patient and can aid in discerning baseline behavior and catatonic behavior. This case also demonstrates that failure to fully respond to the initial recommended dose of 2mg of lorazepam does not rule out catatonia and lower doses of lorazepam may be indicated.

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research Areas

Authors

Fatima Motiwala, MD, Dalton Bourke, MD

Principal Investigator

Charles Wulff, MD