The diagnostic conundrum of late-onset developmental regression in child psychiatry: case series

Background Developmental regression in children, in the absence of neurological damage or trauma, presents a significant diagnostic challenge. The complexity is further compounded when it is associated with psychotic symptoms. Method We discuss a case series of ten children aged 6–10 years, with n...

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Main Authors: Shalu Elizabeth Abraham, Sakhardande Kasturi Atmaram, Poornima Khadanga, Nirmalya Mukherjee, Rajendra Kiragasur Madegowda, Harshini Manohar
Format: Article
Language:English
Published: Cambridge University Press 2025-01-01
Series:BJPsych Open
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Online Access:https://www.cambridge.org/core/product/identifier/S2056472424008408/type/journal_article
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author Shalu Elizabeth Abraham
Sakhardande Kasturi Atmaram
Poornima Khadanga
Nirmalya Mukherjee
Rajendra Kiragasur Madegowda
Harshini Manohar
author_facet Shalu Elizabeth Abraham
Sakhardande Kasturi Atmaram
Poornima Khadanga
Nirmalya Mukherjee
Rajendra Kiragasur Madegowda
Harshini Manohar
author_sort Shalu Elizabeth Abraham
collection DOAJ
description Background Developmental regression in children, in the absence of neurological damage or trauma, presents a significant diagnostic challenge. The complexity is further compounded when it is associated with psychotic symptoms. Method We discuss a case series of ten children aged 6–10 years, with neurotypical development, presenting with late-onset developmental regression (>6 years of age), their clinical course and outcome at 1 year. A comprehensive clinical evaluation, laboratory investigations and neuroimaging ruled out any identifiable neurological cause. Results Mean age at regression was 7.65 (s.d. 1.5) years and mean illness duration was 10.1 (s.d. 8.5) months. The symptom domains included regression (in more than two domains – cognitive, socio-emotional, language, bowel and bladder incontinence), emotional disturbances, and hallucinatory and repetitive behaviours. Response to treatment was gradual over 6 months to 1 year. At 1-year follow-up, nine children did not attain pre-regression functioning, and residual symptoms included not attaining age-appropriate speech and language, socio-emotional reciprocity and cognitive abilities. Conclusions These cases demonstrate a unique pattern of regression with psychiatric manifestations, distinct from autism spectrum disorder and childhood-onset schizophrenia. The diagnostic dilemma arises from the overlap of symptoms with childhood disintegrative disorder (CDD), childhood-onset schizophrenia and autism. This study underscores the diagnostic intricacies of this clinical presentation and highlights the need for longitudinal follow-up to unravel the transitions in phenomenology, course and outcome. For severe manifestations such as developmental regression, where the illness is still evolving, considering CDD as a non-aetiological and transitory/tentative diagnosis would aid against premature diagnostic categorisation and provide scope for ongoing aetiological search.
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spelling doaj-art-f145ebde3e094fc8962e1cb0b47702b12025-01-27T09:05:17ZengCambridge University PressBJPsych Open2056-47242025-01-011110.1192/bjo.2024.840The diagnostic conundrum of late-onset developmental regression in child psychiatry: case seriesShalu Elizabeth Abraham0Sakhardande Kasturi Atmaram1Poornima Khadanga2Nirmalya Mukherjee3Rajendra Kiragasur Madegowda4Harshini Manohar5https://orcid.org/0000-0002-1343-0988Department of Child and Adolescent Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, IndiaDepartment of Child and Adolescent Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, IndiaDepartment of Child and Adolescent Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, IndiaDepartment of Child and Adolescent Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, IndiaDepartment of Child and Adolescent Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, IndiaDepartment of Child and Adolescent Psychiatry, National Institute of Mental Health and Neurosciences, Bangalore, India Background Developmental regression in children, in the absence of neurological damage or trauma, presents a significant diagnostic challenge. The complexity is further compounded when it is associated with psychotic symptoms. Method We discuss a case series of ten children aged 6–10 years, with neurotypical development, presenting with late-onset developmental regression (>6 years of age), their clinical course and outcome at 1 year. A comprehensive clinical evaluation, laboratory investigations and neuroimaging ruled out any identifiable neurological cause. Results Mean age at regression was 7.65 (s.d. 1.5) years and mean illness duration was 10.1 (s.d. 8.5) months. The symptom domains included regression (in more than two domains – cognitive, socio-emotional, language, bowel and bladder incontinence), emotional disturbances, and hallucinatory and repetitive behaviours. Response to treatment was gradual over 6 months to 1 year. At 1-year follow-up, nine children did not attain pre-regression functioning, and residual symptoms included not attaining age-appropriate speech and language, socio-emotional reciprocity and cognitive abilities. Conclusions These cases demonstrate a unique pattern of regression with psychiatric manifestations, distinct from autism spectrum disorder and childhood-onset schizophrenia. The diagnostic dilemma arises from the overlap of symptoms with childhood disintegrative disorder (CDD), childhood-onset schizophrenia and autism. This study underscores the diagnostic intricacies of this clinical presentation and highlights the need for longitudinal follow-up to unravel the transitions in phenomenology, course and outcome. For severe manifestations such as developmental regression, where the illness is still evolving, considering CDD as a non-aetiological and transitory/tentative diagnosis would aid against premature diagnostic categorisation and provide scope for ongoing aetiological search. https://www.cambridge.org/core/product/identifier/S2056472424008408/type/journal_articleDevelopmental regressionchildhood disintegrative disorderlate-onset regressionchildhood-onset schizophreniaautistic regression
spellingShingle Shalu Elizabeth Abraham
Sakhardande Kasturi Atmaram
Poornima Khadanga
Nirmalya Mukherjee
Rajendra Kiragasur Madegowda
Harshini Manohar
The diagnostic conundrum of late-onset developmental regression in child psychiatry: case series
BJPsych Open
Developmental regression
childhood disintegrative disorder
late-onset regression
childhood-onset schizophrenia
autistic regression
title The diagnostic conundrum of late-onset developmental regression in child psychiatry: case series
title_full The diagnostic conundrum of late-onset developmental regression in child psychiatry: case series
title_fullStr The diagnostic conundrum of late-onset developmental regression in child psychiatry: case series
title_full_unstemmed The diagnostic conundrum of late-onset developmental regression in child psychiatry: case series
title_short The diagnostic conundrum of late-onset developmental regression in child psychiatry: case series
title_sort diagnostic conundrum of late onset developmental regression in child psychiatry case series
topic Developmental regression
childhood disintegrative disorder
late-onset regression
childhood-onset schizophrenia
autistic regression
url https://www.cambridge.org/core/product/identifier/S2056472424008408/type/journal_article
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