Background: Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of diagnoses: autism spectrum disorder, intellectual disability, or schizophrenia. Differences in the genetic background could explain these different neurodevelopmental trajectories. However, a more parsimonious hypothesis is to consider that they may be the same phenotypic entity. Catatonic disturbances occasionally reported from adolescence onwards in PMS prompts exploration of the hypothesis that this clinical entity may be an early-onset form of catatonia. The largest cohort of children with childhood catatonia was studied by the Wernicke-Kleist-Leonhard school (WKL school), which regards catatonia as a collection of qualitative abnormalities of psychomotricity that predominantly affecting involuntary motricity (reactive and expressive). The aim of this study was to investigate the presence of psychomotor signs in three young adults carrying a mutation or intragenic deletion of the gene through the prism of the WKL school conception of catatonia.
Methods: This study was designed as an exploratory case study. Current and childhood psychomotor phenomena were investigated through semi-structured interviews with the parents, direct interaction with the participants, and the study of documents reporting observations of the participants at school or by other healthcare professionals.
Results: The findings show catatonic manifestations from childhood that evolved into a chronic form, with possible phases of sub-acute exacerbations starting from adolescence.
Conclusion: The presence of catatonic symptoms from childhood associated with autistic traits leads us to consider that this singular entity fundamentally related to mutations could be a form of early-onset catatonia. Further case studies are needed to confirm our observations.
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http://dx.doi.org/10.3389/fpsyt.2023.1186555 | DOI Listing |
Background: Individuals with Phelan-McDermid syndrome (PMS) present with a wide range of diagnoses: autism spectrum disorder, intellectual disability, or schizophrenia. Differences in the genetic background could explain these different neurodevelopmental trajectories. However, a more parsimonious hypothesis is to consider that they may be the same phenotypic entity.
View Article and Find Full Text PDFThis report highlights a rare single-gene cause of early-onset, treatment-resistant schizophrenia, and its unique responsiveness to clozapine therapy. This case describes a pediatric female who was diagnosed with early-onset schizophrenia and catatonia in her early adolescence, and was later found to have DLG4-related synaptopathy, also known as SHINE syndrome. SHINE syndrome is a rare neurodevelopmental disorder caused by dysfunction of the postsynaptic density protein-95 (PSD-95), encoded by the DLG4 gene.
View Article and Find Full Text PDFZh Nevrol Psikhiatr Im S S Korsakova
January 2022
Mental Health Research Center, Moscow, Russia.
Cases of very early-onset schizophrenia are poorly described in the modern literature due to the ambiguous attribution of these conditions to a number of schizophrenic disorders. The diagnosis is complicated by the atypical presentation of the disease in early childhood. This clinical case reflects the manifestation, dynamics and outcome of the disease, which is important for early diagnosis and initiation of adequate drug intervention and habilitation.
View Article and Find Full Text PDFFront Psychiatry
November 2021
Child and Adolescent Psychiatry Department, Institute of Psychiatry and Neurology (IPiN), Warsaw, Poland.
Electroconvulsive therapy (ECT) has been recognized as an effective treatment option in catatonia, and for prolonged or severe affective episodes and schizophrenia. Response rates vary from 40 to 80% in adolescents. The procedure is safe if the required precautions are undertaken.
View Article and Find Full Text PDFMol Psychiatry
May 2021
The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.
Mendelian and early-onset severe psychiatric phenotypes often involve genetic variants having a large effect, offering opportunities for genetic discoveries and early therapeutic interventions. Here, the index case is an 18-year-old boy, who at 14 years of age had a decline in cognitive functioning over the course of a year and subsequently presented with catatonia, auditory and visual hallucinations, paranoia, aggression, mood dysregulation, and disorganized thoughts. Exome sequencing revealed a stop-gain mutation in RCL1 (NM_005772.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!