Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.

We report on three patients presenting moderate intellectual disability, delayed language acquisition, and mild facial dysmorphia. Array-CGH studies revealed overlapping interstitial 12p13.1 microdeletions encompassing all or part of GRIN2B. GRIN2B encodes the NR2B subunit of the N-methyl-D-aspartate (NMDA) receptor. This receptor is a heteromeric glutamate-activated ion channel, present throughout the central nervous system. It plays a critical role in corticogenesis, neuronal migration, and synaptogenesis during brain development. GRIN2B alterations, including mutation and gene disruption by apparently balanced chromosomal rearrangements, have been described in patients with intellectual disability and autism spectrum disorder. We report here on the first cases of GRIN2B deletion, enlarging the spectrum of GRIN2B abnormalities. Our findings confirm the involvement of this gene in neurodevelopmental disorders. © 2013 Wiley Periodicals, Inc.

Differentiating Genetic Forms of Pontocerebellar Hypoplasia From Acquired Lesions Resembling Pontocerebellar Hypoplasia: Clinical, Neurodevelopmental, and Imaging Insight From 19 Extremely Premature Patients.

It is well established that extreme prematurity can be associated with cerebellar lesions potentially affecting the neurologic prognosis. One of the commonly observed lesions in these cases is pontocerebellar hypoplasia resulting from prematurity, which can pose challenges in distinguishing it from genetically caused pontocerebellar hypoplasia. This confusion leads to unacceptable and prolonged diagnostic ambiguity for families as well as difficulties in genetic counseling. Therefore, it is crucial to identify the clinical and neuroradiologic features allowing to differentiate between acquired and genetic forms of pontocerebellar hypoplasia in order to guide clinical practices and improve patient care. In this regard, we report in the present manuscript the clinical, developmental, and radiologic characteristics of 19 very premature children (gestational age <28 weeks, now aged 3-14 years) with cerebellar lesions and discuss the causal mechanisms. Our findings support the notion that a combination of specific clinical and radiologic criteria is essential in distinguishing between acquired and genetic forms of pontocerebellar hypoplasia.

The prevalence of triggers in paediatric migraine: a questionnaire study in 102 children and adolescents.

The prevalence and characterization of migraine triggers have not been rigorously studied in children and adolescents. Using a questionnaire, we retrospectively studied the prevalence of 15 predefined trigger factors in a clinic-based population. In 102 children and adolescents fulfilling the Second Edition of The International Headache Classification criteria for paediatric migraine, at least one migraine trigger was reported by the patient and/or was the parents' interpretation in 100% of patients. The mean number of migraine triggers reported per subject was 7. Mean time elapsed between exposure to a trigger factor and attack onset was comprised between 0 and 3 h in 88 patients (86%). The most common individual trigger was stress (75.5% of patients), followed by lack of sleep (69.6%), warm climate (68.6%) and video games (64.7%). Stress was also the most frequently reported migraine trigger always associated with attacks (24.5%). In conclusion, trigger factors were frequently reported by children and adolescents with migraine and stress was the most frequent.

Long-term outcome of children with oesophageal atresia type III.

OBJECTIVE: The aim of this study was to evaluate the outcome of patients with oesophageal atresia type III (EA), focusing on the presence of late sequelae and quality of life. METHODS: This was a retrospective case ascertainment followed by clinical assessment of patients. The study parameters included the patients' demographic characteristics, associated abnormalities, presence of gastro-oesophageal reflux disease (GERD) and digestive or respiratory symptoms, results of a clinical examination to evaluate nutritional status, spirometry results and quality of life assessed using the PedsQL 4.0 questionnaire. RESULTS: Of 81 patients with EA type III treated in our institution over a 10-year period, 57 (mean age 13.3 (SE 2.8) years) participated in the study. 39% of the patients underwent fundoplication and 46% presented with anastomotic stenosis requiring dilation. 75% of patients had normal nutritional status (16% were obese, 9% were undernourished). Only 19% of participants had no digestive symptoms; 61% had dysphagia and 35% had symptoms of GERD at the last follow-up. The main respiratory symptoms were chronic cough (19%) and dyspnoea on exertion (37%). Only 37% of patients had no respiratory symptoms. Spirometry showed that 50% of patients had proximal obstruction and/or pulmonary distension, and 11% had restriction syndrome. Their quality of life was good but was lower than in healthy controls (80 vs 84, p<0.05) and lower in patients born prematurely, with symptoms of GERD and with a barky cough. CONCLUSION: The high frequency of late sequelae in EA type III justifies regular and multidisciplinary follow-up through to adulthood.