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Objective:To investigate the effectiveness of the strengths and difficulties questionnaire (SDQ) in the screening for autism spectrum disorders (ASD) and to find optimal scoring methods.Methods:The SDQ were given to parents of 4–12-year-old children with ASD (n=67), internalizing (n=49), externalizing disorders (n=87), and to a community sample (n=114). The total difficulties score and five subscales scores were compared between the four groups. Two additional scoring methods were calculated: prosocial behavior score minus peer relation problems score and sum of prosocial behavior score and emotional symptoms score. Receiving operating characteristics (ROC) analysis was used to find an effective way of screening for ASD.Results:All five subscales of the SDQ differed significantly between the ASD and the community samples. Only prosocial behavior and emotional symptoms subscales scores in the ASD group differed significantly from both internalizing and externalizing disorders groups (p<0.001). The total difficulties score reliably differentiated the ASD group from the community sample, but not from children with psychiatric disorders. Additional scoring methods’ problems showed the best area under the curve (AUC) in ROC analysis.Conclusion:The SDQ discriminates those with ASD well from other children with and without psychiatric disorders. Applying of additional algorithms is more effective rather than using the total difficulties or subscales scores alone.

Phosphatidylinositol Glycan Anchor Biosynthesis class H (PIGH) is an essential player in the glycosylphosphatidylinositol (GPI) synthesis, an anchor for numerous cell membrane‐bound proteins. PIGH deficiency is a newly described and rare disorder associated with developmental delay, seizures and behavioral difficulties. Herein, we report three new unrelated families with two different bi‐allelic PIGH variants, including one new variant p.(Arg163Trp) which seems associated with a more severe phenotype. The common clinical features in all affected individuals are developmental delay/intellectual disability and hypotonia. Variable clinical features include seizures, autism spectrum disorder, apraxia, severe language delay, dysarthria, feeding difficulties, facial dysmorphisms, microcephaly, strabismus, and musculoskeletal anomalies. The two siblings homozygous for the p.(Arg163Trp) variant have severe symptoms including profound psychomotor retardation, intractable seizures, multiple bone fractures, scoliosis, loss of independent ambulation, and delayed myelination on brain MRI. Serum iron levels were significantly elevated in one individual. All tested individuals with PIGH deficiency had normal alkaline phosphatase and CD16, a GPI‐anchored protein (GPI‐AP), was found to be decreased by 60% on granulocytes from one individual. This study expands the PIGH deficiency phenotype range toward the severe end of the spectrum with the identification of a novel pathogenic variant.

Interhemispheric time difference (ITD) measured by electroencephalography (EEG) and magnetoencephalography (MEG) was compared to seizure outcome after callosotomy. Two patients with frequent drop attacks underwent simultaneous EEG and MEG before and after total callosotomy. ITDs in 30 bilateral synchronized (BS) discharges were calculated independently by EEG and MEG. As minimum transcallosal conduction time was suggested to be approximately 20 msec, BS discharges were classified into five categories according to ITD and side: left-or right-leading long (300 to 80 msec), left-or right-leading moderate (80 to 20 msec), and negligible (º20 msec). In Case 1 before callosotomy, EEG detected 77% negligible and 23% right-leading moderate BS discharges, whereas MEG detected 30% and 63%, respectively. After callosotomy, drop attacks reduced remarkably and EEG and MEG detected no BS discharges. In Case 2 before callosotomy, EEG detected 77% negligible and 23% moderate BS discharges, whereas MEG detected 80% and 20%, respectively. After callosotomy, drop attacks recurred 2 months later and EEG and MEG detected left-and right-leading long BS discharges (63% by EEG and 56% by MEG). MEG detected a large number of BS discharges with moderate ITD before surgery in Case 1, suggesting that the transcallosal pathway was the main pathway for the synchronization, whereas the negligible ITD in Case 2 excludes transcallosal propagation. BS discharges with longer ITD after surgery in Case 2 suggest a persistent poly-synaptic non-transcallosal pathway. MEG with higher spatial resolution than EEG may provide surgical indications for callosotomy.