From the Guidelines
Down syndrome regression requires immediate medical evaluation to identify and treat underlying causes, which can sometimes reverse the regression. When considering the management of Down syndrome regression, it's crucial to prioritize comprehensive medical testing to rule out treatable causes such as thyroid dysfunction, sleep apnea, celiac disease, seizures, or depression 1. The evaluation should be conducted by a neurologist or developmental specialist familiar with Down syndrome. Key aspects of the evaluation include:
- Comprehensive medical history and physical examination
- Laboratory tests to check for thyroid function, celiac disease, and other metabolic disorders
- Sleep study to diagnose sleep apnea
- Neurological assessment to identify seizures or other neurological conditions
- Psychological evaluation to assess for depression or other mental health issues
Treatment of Down syndrome regression depends on the underlying cause, and there is no standard medication regimen. For example:
- Hypothyroidism would be treated with levothyroxine
- Sleep apnea might require CPAP therapy
- Depression could be addressed with appropriate antidepressants at doses tailored to the individual
- Seizures would be managed with antiepileptic drugs
- Celiac disease would require a strict gluten-free diet
It's essential to continue or intensify support services, including occupational, physical, and speech therapy, during the evaluation and treatment period. While Down syndrome regression is distinct from Alzheimer's disease, individuals with Down syndrome are at a higher risk for early-onset Alzheimer's, with at least 50% of adults aged 60 years and older exhibiting clinical evidence of dementia 1. Early intervention in addressing the underlying cause of regression can sometimes reverse the condition, emphasizing the importance of prompt medical attention.
From the Research
Down Syndrome Regression
- Down syndrome regression disorder (DSRD) is a symptom cluster consisting of neuropsychiatric regression without cause, with recent advances in diagnosis and clinical approach 2.
- Individuals with DSRD are responsive to a variety of psychiatric pharmacotherapy and immunotherapy, underscoring that this phenotype may have multiple causes 2.
- A multi-site, international, longitudinal cohort of individuals with Unexplained Regression in Down syndrome (URDS) showed improvement rates using electroconvulsive therapy (ECT), intravenous immunoglobulin (IVIG), and others, with IVIG being significantly associated with higher rate of improvement in symptoms 3.
Treatment and Management
- Management with IVIG was significantly associated with higher rate of improvement in symptoms at the next visit (p = 0.001) 3.
- Donepezil hydrochloride, a cholinesterase inhibitor, has been studied for the treatment of language deficits in adults with Down syndrome, with results showing improvement in expressive language performance 4.
- Multidisciplinary early intervention in Down syndrome has been shown to lead to better outcomes in children with DS, in development and cognitive functioning, compared to conventional care 5.
Regression Characteristics
- Acute regression in Down syndrome typically occurs between the teenage years and mid to late 20s, characterized by sudden, and often unexplained, reductions in language skills, functional living skills, and reduced psychomotor activity 6.
- Individuals with DS who experience acute regression may be at increased risk for Alzheimer's disease (AD) at an earlier age, with possible meaningful differences in proteomics biomarkers and hippocampal, caudate, and putamen volumes 6.