Clinical symptoms of a child with rare Dravet syndrome associated with autistic spectrum disorder and intellectual disability: a case study

*Correspondence: [e-mail].

Abstract

Case Presentation: A 6-year-old male child was evaluated by a team composed of a psychologist and a neurologist to assess symptoms of Autism Spectrum Disorder (ASD). The child had a genetic diagnosis of Dravet Syndrome. Regarding neuropsychomotor development, the child walked at 8 months, started babbling the first words at 8 months, but presented speech regression and was still wearing diapers. In view of the personal background, the child had paralysis in the body, several episodes of seizures, cardiac alterations and gait imbalances.

Discussion: Through the anamnesis and the child's behavior in the assessments, it was observed that the infant had impairments in social reciprocity, did not direct attention when called by name, had fragmented eye contact. He had impairments in expressive and receptive language. He spoke simple words, but without communicative intention, had cognitive impediments to form dialogues, had immediate echolalia. He took the adult's hand to direct it to the object of interest. During the evaluations, he performed motor stereotypies with his hands and verbal stereotypy, looked at objects in a peculiar way, lined up toys and had an idiopathic equine gait. Regarding adaptive skills/activities of daily living, the child was totally dependent on the mother to perform them.

Final Comments: In view of impairments in socialization, communication and the presence of stereotyped behaviors, the child met diagnostic criteria for ASD and scored 36 points (mild/moderate autism) on the Childhood Autism Rating Scale, but also met diagnostic criteria for Intellectual Disability that compromises intellective functions and adaptive abilities. Dravet syndrome or severe childhood myoclonic epilepsy is a severe and chronic encephalopathy that causes irreversible neurological damage and has a high mortality rate in childhood. In short, the child had a rare genetic disorder associated with cognitive impairments, recurrent seizures and ASD symptoms. In the diagnostic evaluation, it was crucial to observe the child's other comorbidities, as referrals were given due to the need for the infant to be continuously monitored by a multidisciplinary team, given the progressive and neurodegenerative impairments observed in the respective child.

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Artikel online veröffentlicht:
12. Mai 2025