METHODOLOGY: Parents of children and adolescents diagnosed with ADHD attending the University Kebangsaan Malaysia Medical Centre (UKMMC) were recruited between June to August 2022 and the administered Conners' Adult ADHD Rating Scale (CAARS) self-report short form, Vanderbilt ADHD Parent Rating Scale (performance section), and Medication Adherence Report Scale (MARS).

RESULTS: Forty-five children with ADHD were recruited and 15 out of 45 (33%) parents were detected to have ADHD. ADHD severity was worse in children with ADHD parents for total severity (mean of 34.67 vs. 29.13, p = 0.047) and difficult behaviours at home (mean of 7.87 vs. 6.27, p = 0.036). The children's academic performance and behavioural challenges at home and school were positively correlated with the parental ADHD scores for 'inattention' and 'problems with self-care' subscales.

RESULTS: Twenty-two patients (from 16 unrelated families) were molecularly diagnosed as XLA. Genetic testing revealed fifteen distinct mutations, including four splicing mutations, four missense mutations, three nonsense mutations, three short deletions, and one large indel mutation. These mutations scattered throughout the BTK gene and mostly affected the kinase domain. All mutations including five novel mutations were predicted to be pathogenic or deleterious by in silico prediction tools. Genetic testing confirmed that eleven mothers and seven sisters were carriers for the disease, while three mutations were de novo. Flow cytometric analysis showed that thirteen patients had minimal BTK expression (0-15%) while eight patients had reduced BTK expression (16-64%). One patient was not tested for monocyte BTK expression due to insufficient sample. Pneumonia (n=13) was the most common manifestation, while Pseudomonas aeruginosa was the most frequently isolated pathogen from the patients (n=4). Mild or asymptomatic COVID-19 was reported in four patients.