Management

Symptomatic management of KDM5A-related neurodevelopmental disorder should be tailored to the specific needs of the individual.

Examination after diagnosis

To establish the clinical management needs, an examination should be conducted that includes the following:
•    Detailed developmental and medical history.
•    Speech and language assessment.
•    Cognitive function assessment.
•    Social skills assessment for the presence of autistic features.
•    Psychiatric evaluation in case of behavioural problems.

Additional follow-up examinations
•    Consultation with a clinical geneticist and/or genetic counsellor.
•    Referral to a neurodevelopmental team for a formal autism spectrum disorder diagnosis.
•    Referral to a neuropsychologist or clinical psychologist to determine the extent of cognitive and learning impairments.
•    Referral to a physiotherapist if any motor deficits are observed.
•    Neurologic evaluation including EEG if seizures are suspected.
•    Consideration of MRI to test for the presence of brain abnormalities.

Intervention
The optimal approach is determined based on the individual’s clinical presentation and the severity of symptoms; specifically:
Cognitive deficits: A clinical psychologist or neuropsychologist provides strategies to manage specific cognitive or social skill domains.
Speech, language, and literacy impairments: A speech therapist applies targeted therapies.
Fine and gross motor deficits: A physiotherapist provides intervention for motor deficits.

Surveillance
•    Routine care and regular evaluation of development by a pediatrician.
•    Follow-up evaluations with standardized tests by a speech-language therapist.
•    Evaluation of relatives at risk.