NIPBL gene mutations in two children with Cornelia de Lange syndrome / 中国当代儿科杂志

Both children (one boy and one girl) experienced disease onset in infancy and visited the hospital due to growth retardation. They had unusual facies including thick hair, arched and confluent eyebrows, long and curly eyelashes, short nose, and micrognathia. Patient 1 had congenital heart disease (atrial septal defect and pulmonary stenosis) and special dermatoglyph (a single palmar crease). Patient 2 had cleft palate and moderate-to-severe deafness. Clinical features suggested Cornelia de Lange syndrome in both children. High-throughput sequencing was used to detect the seven known pathogenic genes of Cornelia de Lange syndrome, i.e., the NIPBL, SMC1A, SMC3, HDAC8, RAD21, EP300, and ANKRD11 genes. Sanger sequencing was used to analyze and verify gene mutations. Both patients were found to have novel mutations in the NIPBL gene. One patient had a frameshift mutation in exon 45, c.7834dupA, which caused early termination of translation and produced truncated protein p.R2612fsX20. The other patient had a nonsense mutation, c.505C>T, which caused a premature stop codon and produced truncated protein Q169X. Such mutations were not found in their parents or 50 unrelated healthy individuals.

Molecular genetics of functional articulation disorder in children / 中国当代儿科杂志

Genetic factors are an important cause of functional articulation disorder in children. This article reviews some genes and chromosome regions associated with a genetic susceptibility to functional articulation disorders. The forkhead box P2 (FOXP2) gene on chromosome 7 is introduced in details including its structure, expression and function. The relationship between the FOXP2 gene and developmental apraxia of speech is discussed. As a transcription factor, FOXP2 gene regulates the expression of many genes. CNTNAP2 as an important target gene of FOXP2 is a key gene influencing language development. Functional articulation disorder may be developed to dyslexia, therefore some candidate regions and genes related to dyslexia, such as 3p12-13, 15q11-21, 6p22 and 1p34-36, are also introduced. ROBO1 gene in 3p12.3, ZNF280D gene, TCF12 gene, EKN1 gene in 15q21, and KIAA0319 gene in 6p22 have been candidate genes for the study of functional articulation disorder.

Characteristics of developmental regression in autistic children / 中国当代儿科杂志

<p><b>OBJECTIVE</b>About 30% of autistic cases experience developmental regression around 2 years of age. The clinical course and manifestations of autistic children with regression remain unclear. This study investigated the clinical features of a group of autistic children with regression.</p><p><b>METHODS</b>One hundred and fifty-two children at ages of 2.5-6.5 years confirmed with autism based on DSM-IV diagnostic criteria were enrolled. They were grouped according to language development: normal or regression. The perinatal history, developmental history and characteristics of regression were investigated. The symptoms were compared between the two groups.</p><p><b>RESULTS</b>Regressions were observed in 33 children (21.7%) at age of between 16 and 21 months, with loss both in communicative skills and social engagement. The regressive group was scored significantly higher on the Childhood Autism Rating Scale (CARS) (P<0.05) and had a relatively higher proportion of severely ill children (66.7% vs 45.4%; P<0.05)compared with the non-regressive group.</p><p><b>CONCLUSIONS</b>Regression as a characteristic symptom occurs in some autistic children and is of value for diagnosis of autism. The autistic children with regression display more severe social and language impairments than those without regression. Regressive autism may be a special subtype.</p>

Comorbidities and behavioral problems in children with functional articulation disorder / 中国当代儿科杂志

<p><b>OBJECTIVE</b>To study the incidences of comorbidities and behavioral problems in children with functional articulation disorders.</p><p><b>METHODS</b>One hundred and twelve children with functional articulation disorders (aged 4-11 years) were enrolled. Their comorbidities were identified based on clinical investigations and the DSM-IV diagnosis criteria of attention deficit hyperactivity disorder (ADHD), stuttering, tic disorders and enuresis. Behavioral problems were evaluated by the Conners Parent Symptom Questionnaire and the Child Behavior Checklist.</p><p><b>RESULTS</b>Sixty-nine patients (61.6%) had one or more comorbidities. The incidence of comorbidity in children with middle-severe functional articulation disorders was higher than in those with mild disorders. The most common comorbidity was language impairment (30.4%), followed by stuttering (16.1%), enuresis (13.4%), and tic disorders (6.3%). In school age children, ADHD (47.5%) was the most common comorbidity. The incidence of behavioral problems was 40.2% by the Child Behavior Checklist and 57.1% by the Parent Symptom Questionnaire.</p><p><b>CONCLUSIONS</b>The children with functional articulation disorders have high incidence of comorbidity and many behavioral problems.</p>

The investigation of the relationship between the phenotypes of 46, XX males and the SRY gene / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the relationship between the phenotypes in XX male patients and the sex determining region(SRY) gene.</p><p><b>METHODS</b>Multiple polymerase chain reactions were carried out in 6 male patients with karyotype of 46, XX, and then the PCR products were sequenced directly.</p><p><b>RESULTS</b>Three cases of male infertility were positive for the SRY gene without evident malformation in their extra genitalia, while 3 cases with testes were negative for the SRY gene, with evident malformation in their extra genitalia.</p><p><b>CONCLUSION</b>The SRY gene is key in sex determination and development, yet there might be other important genes involved.</p>

Behavioral patterns of autistic children during infancy / 中国当代儿科杂志

<p><b>OBJECTIVE</b>The present study investigated the behavioral patterns of autistic children during infancy to provide clues for early identification of childhood autism.</p><p><b>METHODS</b>The abnormal behaviors of 30 children with autism and 26 children with other developmental disorders in infancy were investigated.</p><p><b>RESULTS</b>The children with autism presented a series of abnormal behaviors, including no social smile, no eye contact and no respond to own name, and joint attention deficiency, which were distinguished from the children with other developmental disorders. The imitation and attachment behaviors were significantly different between the two groups. Repetitive motor actions and interest peculiarity were only seen in children with autism.</p><p><b>CONCLUSIONS</b>The children with autism may present a series of abnormal behaviors as early as in infancy. The abnormal behaviors facilitate early diagnosis of autism.</p>