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Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus in identical siblings
Adam B Lewin1, Eric A Storch, Tanya K Murphy
1Rothman Center for Neuropsychiatry, Department of Pediatrics, University of South Florida College of Medicine, St. Petersburg, Florida 33701, USA. alewin@health.usf.edu
Insights
Pediatric Autoimmune Neuropsychiatric Disorders associated with Streptococcus (PANDAS) can present differently even in genetically identical siblings. Environmental factors likely play a role in the varied presentation of PANDAS.
Area of Science:
- Pediatric Neurology
- Immunology
- Genetics
Background:
- Pediatric Autoimmune Neuropsychiatric Disorders associated with Streptococcus (PANDAS) are characterized by acute-onset obsessive-compulsive and tic disorders following Group A Streptococcus infections.
- The familial associations and genetic underpinnings of PANDAS remain understudied.
Observation:
- This report details three sibling sets (including twins and triplets) with genetically identical individuals, some presenting with PANDAS and others asymptomatic.
- Phenotypic descriptions highlight significant variations in PANDAS presentation among genetically identical siblings.
Findings:
- Genetically identical siblings exhibited discordant PANDAS presentations, ranging from full symptom manifestation to being asymptomatic.
- This suggests a substantial role for environmental influences in the development and severity of PANDAS.
Implications:
- Environmental factors, such as post-infectious molecular mimicry and epigenetic modifications, are critical areas for further research in PANDAS.
- Understanding these influences is key to developing targeted prevention and treatment strategies for pediatric autoimmune neuropsychiatric disorders.
Abstract:
Termed pediatric autoimmune neuropsychiatric disorders associated with Streptococcus (PANDAS), these cases of childhood-onset obsessive compulsive disorder and tic disorders resemble the presentation of Sydenham chorea, in that they have an acute onset following a group A beta-hemolytic streptococcal infection (group A Streptococcus), with accompanying neurological signs, and an episodic or sawtooth course. Familial associations of this subgroup of patients remain understudied. This report provides phenotypic descriptions of three youth with PANDAS as well as their genetically identical siblings (in two cases of twins and one case of triplets). These cases highlight the potential for environmental influences for discordant presentations in genetically identical siblings. Despite identical genetics, presentations showed marked variation across siblings (from a full PANDAS presentation to asymptomatic). Further research into environmentally driven influences such as postinfectious molecular mimicry and epigenetic factors that may influence the manifestation of these pediatric neuropsychiatric disorders will promote our understanding of their prevention and treatment.
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