BackgroundThe DSM-IV-TR (Diagnostic and Statistical Manual of Mental Disorders, 4th edition Textrevision) highlights the especially poor outcomes of early-onset conduct disorder (CD). The strong link between the patient's age at treatment and its efficacy points the importance of early intervention. Risperidone is one of the most commonly studied medications used to treat CD in children and adolescents. The aim of this study is to obtain preliminary data about the efficacy and tolerability of risperidone treatment in otherwise typically developing preschool children with conduct disorder and severe behavioral problems.MethodWe recruited 12 otherwise normally developing preschoolers (ten boys and two girls) with CD for this study. We could not follow up with 4 children at control visits properly; thus, 8 children (six girls, two boys; mean age: 42.4 months) completed the study. We treated the patients with risperidone in an open-label fashion for 8 weeks, starting with a daily dosage of 0.125 mg/day or 0.25 mg/day depending on the patient's weight (<20 kg children: 0.125 mg/day; >20 kg children: 0.25 mg/day). Dosage titration and increments were performed at 2-week interval clinical assessments. The Turgay DSM-IV Based Disruptive Behavior Disorders Child and Adolescent Rating & Screening Scale (T-DSM-IV-S) as well as the Clinical Global Impression Scale (CGI) assessed treatment efficacy; the Extrapyramidal Symptom Rating Scale (ESRS) and laboratory evaluations assessed treatment safety.ResultsThe mean daily dosage of risperidone at the end of 8 weeks was 0.78 mg/day (SD: 0.39) with a maximum dosage of 1.50 mg/day. Based on the CGI global improvement item, we classified all patients as "responders" (very much or much improved). Risperidone was associated with a 78% reduction in the CGI Severity score. We also detected significant improvements on all of the subscales of the T-DSM-IV-S. Tolerability was good, and serious adverse effects were not observed. We detected statistically significant prolactin level increments (p < 0.05), but no clinical symptoms associated with prolactinemia.ConclusionThe results of this study suggest that risperidone may be an effective and well-tolerated atypical antipsychotic for the treatment of CD in otherwise normally developing preschool children. The findings of the study should be interpreted as preliminary data considering its small sample size and open-label methodology.
This very small study of aripiprazole, given to children with OCD resistant to at least 12 weeks treatment with at least two SSRIs and CBT, demonstrated striking improvement in CGI scores (all subsets, p≤0.002) for 13 of 16 children, and halved all CY-BOCS subscores after ∼12 weeks of treatment.
The results of this study highlighted the positive role of MPH in ADHD. No significant effects were observed after the addition of parent training to MPH treatment. Clinicians should carefully follow patients' improvements and titrate the MPH dosage during long-term treatment.
Background
Phosphatase and tensin homolog (PTEN) germline mutations are associated with cancer syndromes (PTEN hamartoma tumor syndrome; PHTS) and in pediatric patients with autism spectrum disorder (ASD) and macrocephaly. The exact prevalence of PTEN mutations in patients with ASD and macrocephaly is uncertain; with prevalence rates ranging from 1% to 17%. Most studies are retrospective and contain more adult than pediatric patients, there is a need for more prospective pediatric studies.
Methods
We recruited 131 patients (108 males, 23 females) with ASD and macrocephaly between the ages of 3 and 18 from five child and adolescent psychiatry clinics in Turkey from July 2018 to December 2019. We defined macrocephaly as occipito‐frontal HC size at or greater than 2 standard deviations (SD) above the mean for age and sex on standard growth charts. PTEN gene sequence analysis was performed using a MiSeq next generation sequencing (NGS) platform, (Illumina).
Conclusion
PTEN gene sequence analyses identified three pathogenic/likely pathogenic mutations [NM_000314.6; p.(Pro204Leu), (p.Arg233*) and novel (p.Tyr176Cys*8)] and two variants of uncertain significance (VUS) [NM_000314.6; p.(Ala79Thr) and c.*10del]. We also report that patient with (p.Tyr176Cys*8) mutation has Grade 1 hepatosteatosis, a phenotype not previously described. This is the first PTEN prevalence study of patients with ASD and macrocephaly in Turkey and South Eastern Europe region with a largest homogenous cohort. The prevalence of PTEN mutations was found 3.8% (VUS included) or 2.29% (VUS omitted). We recommend testing for PTEN mutations in all patients with ASD and macrocephaly.
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