Autism Spectrum Disorder in Hypothalamic Hamartoma: Early Developmental Trajectory, Symptom Profile, and Relevance for Autism Research
6 affiliations
- 1CESP Inserm Versailles Saint-Quentin-en-Yvelines University (UVSQ) Paris-Saclay University Versailles France inserm.fr
- 2PEDIATED–Child and Adolescent Psychiatry Unit Versailles Hospital Versailles France
- 3Department of General Pediatrics Paris-Saclay Hospital Orsay France
- 4Department of Pediatric Neurology Bicêtre Hospital (AP-HP) Le Kremlin-Bicetre France
- 5Constitutional Genetics Unit Versailles Hospital Versailles France
- 6Department of Paediatric Endocrinology Diabetology Gynaecology Necker-Enfants–Malades University Hospital (AP-HP) Paris France
Abstract
Focal brain lesions occurring during critical developmental periods can shed light on the neural substrates underlying autistic symptoms. Hypothalamic hamartomas (HH) are rare congenital malformations that are typically characterized by pharmacoresistant epilepsy, endocrine disturbances, and behavioral or psychiatric disorders. Although autistic symptoms have occasionally been reported in children with HH, they remain poorly described and are rarely documented with standardized diagnostic tools. We present a case report of a 3‐year‐old boy with HH who was followed from 2 years of age. The report combines detailed early neurodevelopmental history, neuroimaging data, and standardized autism assessments. The child exhibited global developmental delay, early intense sensory features, and marked social communication deficits. The first developmental difficulties preceded the onset of seizures. At 29 months of age, magnetic resonance imaging identified a small intrahypothalamic hamartoma. At 36 months, the Autism Diagnostic Observation Schedule‐2 and the Autism Diagnostic Interview‐Revised confirmed the diagnosis of autism spectrum disorder (ASD). A comparison with 3 subjects with ASD matched for sex, chronological age, and developmental age showed that the child presented less severe deficits in sharing enjoyment and less intense unusual preoccupations than age‐matched autistic peers. This case highlights the importance of systematic ASD screening in children with HH, allowing timely referral to evidence‐based early interventions. Moreover, HH may offer a valuable framework for investigating early neurodevelopmental mechanisms associated with ASD, while highlighting the potential contribution of the hypothalamus to early autism mechanisms.
Related
- ATP1A3 dysfunction alters excitability and developmental trajectory of human neurons in alternating hemiplegia of childhood
- Spatial perspective-taking abilities on ambiguous tactile stimuli: The case of children with autism spectrum disorder or developmental coordination disorder
- A novel LARP7 variant expands the phenotypic spectrum of Alazami syndrome and reveals transcriptomic dysregulation of developmental and extracellular matrix pathways.
- Case Report: A novel hemizygous nonsense variant in PPP1R3F gene associated with developmental delay, intellectual disability and autism spectrum disorder
- From developmental divergence to degenerative vulnerability: convergent molecular mechanisms linking autism spectrum disorder and Alzheimer’s disease
BibTeX
@article{auge2026autism,
title = {{Autism Spectrum Disorder in Hypothalamic Hamartoma: Early Developmental Trajectory, Symptom Profile, and Relevance for Autism Research}},
author = {Pierre Augé and Charlotte Mansat and Geoffroy Delplancq and Dinane Samara-Boustani and Marie-Joëlle Orêve and Mario Speranza},
journal = {Case Reports in Pediatrics},
year = {2026},
month = nov,
doi = {10.1155/crpe/3750797},
url = {https://doi.org/10.1155/crpe/3750797},
note = {CC BY 4.0},
}
RIS
TY - JOUR
TI - Autism Spectrum Disorder in Hypothalamic Hamartoma: Early Developmental Trajectory, Symptom Profile, and Relevance for Autism Research
AU - Pierre Augé
AU - Charlotte Mansat
AU - Geoffroy Delplancq
AU - Dinane Samara-Boustani
AU - Marie-Joëlle Orêve
AU - Mario Speranza
PY - 2026
DA - 2026/11/04
JO - Case Reports in Pediatrics
DO - 10.1155/crpe/3750797
UR - https://doi.org/10.1155/crpe/3750797
AB - Focal brain lesions occurring during critical developmental periods can shed light on the neural substrates underlying autistic symptoms. Hypothalamic hamartomas (HH) are rare congenital malformations that are typically characterized by pharmacoresistant epilepsy, endocrine disturbances, and behavioral or psychiatric disorders. Although autistic symptoms have occasionally been reported in children with HH, they remain poorly described and are rarely documented with standardized diagnostic tools. We present a case report of a 3‐year‐old boy with HH who was followed from 2 years of age. The report combines detailed early neurodevelopmental history, neuroimaging data, and standardized autism assessments. The child exhibited global developmental delay, early intense sensory features, and marked social communication deficits. The first developmental difficulties preceded the onset of seizures. At 29 months of age, magnetic resonance imaging identified a small intrahypothalamic hamartoma. At 36 months, the Autism Diagnostic Observation Schedule‐2 and the Autism Diagnostic Interview‐Revised confirmed the diagnosis of autism spectrum disorder (ASD). A comparison with 3 subjects with ASD matched for sex, chronological age, and developmental age showed that the child presented less severe deficits in sharing enjoyment and less intense unusual preoccupations than age‐matched autistic peers. This case highlights the importance of systematic ASD screening in children with HH, allowing timely referral to evidence‐based early interventions. Moreover, HH may offer a valuable framework for investigating early neurodevelopmental mechanisms associated with ASD, while highlighting the potential contribution of the hypothalamus to early autism mechanisms.
SN - 2090-6803
SN - 2090-6811
ER -