Clinical characterization of Lamb-Shaffer syndrome: a case report and literature review.

BACKGROUND: Lamb-Shaffer syndrome (LAMSHF, MIM 616,803) is a rare neurodevelopmental disorder due to haploinsufficiency of SOX5. Furthermore, studies about the clinical features of LAMSHF patients with same allele of c.1477C > T (p. R493*) are very limited. CASE PRESENTATION: We analyzed the phenotypes of one of our cases and two previously reported cases with c.1477C > T (p. R493*), and reviewed the correlating literature. A de novo heterozygous variation c.1477C > T (p. R493*) in SOX5 was identified in a 4 years and 2 months old boy with global development delay by trio-based whole exome sequencing. We compared our case and previously 2 cases reported with recurrent variation, the overlapping clinical features are global developmental delay or intellectual disability, language delay and scoliosis, but their other clinical characteristics are different. CONCLUSIONS: This study suggests that the clinical features of LAMSHF patients with recurrent variations in the SOX5 gene are different. It is suggested that the LAMSHF-related SOX5 gene should be screened and included as one of the candidate genes for neurodevelopmental disorders of unknown etiology.

[Relationship between dopamine D4 receptor gene polymorphisms and primary nocturnal enuresis].

OBJECTIVE: To study polymorphisms of dopamine D4 receptor (DRD4) in children with primary nocturnal enuresis (PNE) and explore the relationship between DRD4 gene polymorphisms and PNE. METHODS: Genomic DNA was isolated from leukocytes in 86 unrelated children with PNE and in 100 healthy unrelated children (controls). Polymorphisms of DRD4-1240L/S, -616C/G and -521C/T were genotyped by allele-specific primer PCR. RESULTS: There were significant differences in allele frequencies (x2=8.13, P<0.05) and genotypes frequencies (x2=6.23, P<0.05) of DRD4-616C/G between PNE patients and healthy controls. The frequency of haplotype LCT consisting of 3 function polymorphic sites DRD4-1240L/S, -616C/G and -521C/T in PNE patients was statistically higher than that in healthy controls (x2=5.88, P<0.05). CONCLUSIONS: The change of C to G of DRD4-616 may affect the induction and transcription of DRD4 gene. The haplotype LCT consisting of 3 function polymorphic sites DRD4-1240L/S, -616C/G and -521C/T may synergistically inhibit the transcription activity of DRD4 gene. This might lead to a reduction of DRD4 protein expression and cause nocturnal enuresis.

[Effectiveness of oral osmotic-methylphenidate in treatment of attention deficit hyperactivity disorder in children].

OBJECTIVE: Methylphenidate is recommended as a first-line modality for treating attention deficit hyperactivity disorder (ADHD). In the past, immediate release methylphenidate (IR-MPH) was used for ADHD. Now oral osmotic-methylphenidate (OROS-MPH) is used for ADHD in China. This study was designed to investigate the efficacy and safety of OROS-MPH for treatment of ADHD in children. METHODS: Ninety-nine children with ADHD were randomly administered with OROS-MPH (18 mg/time, once daily) and IR-MPH (5 mg/ time, twice or three times per day). After 6 weeks of treatment, the therapeutic effects were evaluated by the SNAP-IV and the IVA-CPT. RESULTS: Fifty patients completed the 6-week treatment. The effective rate (83.3% vs 75%) and the complete remission rate (44% vs 25%) in the OROS-MPH treatment group were higher than that in the IR-MPH treatment group. There were statistically significant differences in the SNAP-IV and IVA-CPT scores before and after treatment in the two groups (P<0.01). The two groups had a similar incidence of side effects during treatment. CONCLUSIONS: OROS-MPH for the treatment of ADHD is effective and safe in children, and its once-daily administration is more convenient.

[Intelligence level and intelligence structure of children with primary nocturnal enuresis].

OBJECTIVE: Some research has shown that there may be memory/caution (M/C) defects in children with primary nocturnal enuresis (PNE). This study aimed to investigate whether the defects affect the intelligence level and the intelligence structure in PNE children. METHODS: Intelligence tests were performed by means of Wechsler Young Children Scales of Intelligence (C-WISC) in 40 children with PNE and 40 age-matched normal children. RESULTS: The full intelligence quotient (FIQ), verbal IQ (VIQ) and performances IQ (PIQ) in the PNE group were in a normal range and did not different from the control group. There were significant differences in the scores for digit extent, decipher, knowledge and arithmetics between the PNE and the control groups (P < 0.05). M/C factor in the PNE group was statistically lower than in the control group (93.44 +/-11.27 vs 100.03 +/-11.79; P < 0.05). CONCLUSIONS: The total intelligence level of children with PNE was normal, but the M/C factor in the intelligence structure had some defects, suggesting that PNE may be related to the abnormity of executive function in the frontal lobe.

[Value of integrated visual and auditory continuous performance test in the diagnosis of childhood attention deficit hyperactivity disorder].

OBJECTIVE: To study the value of the integrated visual and auditory continuous performance test (IVA-CPT) in the diagnosis of childhood attention deficit hyperactivity disorder (ADHD). METHODS: IVA-CPT was performed in 153 children (6-15 years old) with suspected ADHD. The "gold standard" for the diagnosis of ADHD was based on the Chinese Classification and Diagnostic Criteria of Mental Disease (3rd version) (CCMD-3) or the Diagnostic and Statistical Manual of Mental Disorders (4th version, USA) (DSM-IV). RESULTS: When CCMD-3 was used as the "gold standard", the sensitivity and specificity of IVA-CPT for the diagnosis of ADHD were 72.7% and 46.0% respectively. There were no significant differences in the diagnostic positive detection rate between the two diagnostic ways. When DSM-IV was used as the "gold standard", the sensitivity and specificity of IVA-CPT for the diagnosis of ADHD were 71.6% and 56.5% respectively. There were no significant differences in the diagnostic positive detection rate between the two diagnostic ways. There were similar results in the identification of subtypes of ADHD by the two diagnostic ways. The sensitivity and specificity of IVA-CPT for the diagnosis of ADHD in the 10-15 years old group were lower than those in the 6-9 years old group when either CCMD-3 or DSM-IV was used as the "gold standard". CONCLUSIONS: IVA-CPT can be used as an assisted tool for the diagnosis of ADHD. It is more effective for the diagnosis of ADHD in younger children.

Molecular cloning, characterization and expression analysis of QM gene from grass carp (Ctenopharyngodon idellus) homologous to Wilms' tumor suppressor.

QM, a novel gene that was originally identified as a tumor suppressor, has been cloned from species encompassing members of higher vertebrate, plant and fungal kingdoms, but it is not well documented in fish. In present study, a gene homologous to QM was obtained from grass carp (Ctenopharyngodon idellus) head kidney and spleen cDNA library. The full-length grass carp QM (GcQM) cDNA of 759 bp contains a short 5' UTR of 22 bp, a 3' UTR of 89 bp and an open reading frame of 648 nucleotides that translates into a 215-amino acid peptide with a molecular weight of 24.5 kDa. The predicted GcQM contains a series of functional motifs that belong to the QM family signature conserved among different species. Multiple alignment analysis reveals that GcQM shares an overall identity of 62.4% approximately 97.7% with other members of QM family. The fish QM has a closest genetic relationship to chicken homologue Jif-1. The GcQM expresses constitutively in spleen, heart and brain, and significantly up-regulated by Aeromonas hydrophila and grass carp haemorrhagic virus (GCHV) in head kidney, spleen and liver. The results suggest that grass carp QM homolog is an inflammatory stress inducible gene associated with anti-bacterial and viral defense, and it plays an important role in immune defense.