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Glucose transporter protein type 1 deficiency syndrome is a metabolic disorder manifesting as cognitive impairment, acquired microcephaly, epilepsy, and/or movement disorder caused by mutations in the SLC2A1 gene. We describe a cohort of isolated and familial cases of glucose transporter protein type 1 deficiency syndrome, emphasizing seizure semiology, electroencephalographic (EEG) features, treatment response and mutation pathogenicity. SLC2A1 mutations were detected in 3 sporadic and 4 familial cases. In addition, mutations were identified in 9 clinically unaffected family members in 2 families. The phenotypic spectrum of glucose transporter protein type 1 deficiency is wider than previously recognized, with considerable intra-familial variation. Diagnosis requires either hypoglycorrachia followed by SLC2A1 sequencing or direct gene sequencing. A ketogenic diet should be the first line of treatment, but more flexible diets, like the Atkins modified diet, can also be followed. Carbonic anhydrase inhibitors, such as acetazolamide or zonisamide, can be effective for seizure control.

Attention deficit hyperactivity disorder (ADHD) is a childhood neurological disorder. Studies have shown that children with ADHD are more prone to caries than those without. The study investigated children diagnosed with ADHD, both with and without pharmacological intervention, and the following: DMFT\dmft, plaque index (PI), mutans streptococci (MS) levels, lactobacilli (LB) levels, salivary flow, salivary buffer capacity, oral hygiene, and diet. DMFT/dmft index, PI, MS and LB levels, salivary flow, and salivary buffer capacity were examined in three groups of children: ADHD1—diagnosed with ADHD with no pharmacological intervention (N = 31), ADHD2—treated with medications for ADHD (N = 30), and a healthy control group (N = 30). Diet and oral health habits were assessed through questionnaires completed by parents. There were no differences in the DMFT/dmft index, MS and LB counts, salivary buffer capacity, and parent reported diet and oral health behavior between the three groups. Children with ADHD demonstrated a higher plaque index. Although children with ADHD did not report different diet and oral health behavior from children without ADHD, this group had significantly higher levels of plaque than the control group, which combined with hyposalivation may be a risk factor for caries at an older age. Medicated and non-medicated ADHD children were similar to control children in their caries rate, MS and LB counts, salivary buffer capacity, and diet and oral health behavior. They differed in the amount of plaque found on their teeth. As a group, ADHD children demonstrated hyposalivation compared with the control.

Background Attention deficit hyperactivity disorder (ADHD) is a childhood neurological disorder that presents in 3–7% of school-age children. Studies have shown that children, adolescents and young adults with ADHD are more prone to caries than those without. Aim The study investigated a possible relationship between the oral health status of children, adolescents and young adults diagnosed with ADHD, both with and without pharmacological intervention, and the following: salivary flow rate, oral mucosal pH, plaque index (PI), oral hygiene and dietary behaviour. Study design DMFT/dmft index (D;d-Decay, M;m-Missing; F;f-Filled,T;t-teeth), plaque index, oral mucosal pH and unstimulated whole salivary flow (USF) were examined in three groups of children, adolescents and young adults: those diagnosed with ADHD with no pharmacological intervention (N = 31), those treated with medications for ADHD (N = 30), and a healthy control group (N = 30). Diet and oral health habits were assessed by means of questionnaires completed by parents. Results Mean USF values were 0.72, 0.85 and 1.13 ml/min for participants with ADHD and without medication, with ADHD and with medication, and without ADHD, respectively (p = 0.016). There were no differences in the DMFT/dmft index and in parent reported diet and oral health behaviour between the three groups. Children with ADHD demonstrated a statistically significant higher plaque index (p Conclusions The ADHD group, with or without pharmacological intervention, showed higher plaque index and lower USF, but no difference in DMFT/dmft. The ADHD group did not differ from the non-ADHD group in their diet or oral health behaviour as assessed by parent reports.

Objects: The relationship between increased central venous pressure (CVP) and development of hydrocephalus has been extensively discussed in the neuropediatric literature. However, the possibility of a direct connection has not been systematically examined. The purpose of this prospective study was to examine whether there was a correlation between elevated CVP and hydrocephalus in children undergoing cardiac catheterization. Methods: We used cardiac catheterization to measure the right atrial and superior vena caval pressure in 37 children (mean age 30 months) with congenital heart malformations. The children had CVP higher than normal (mean 10.2±3.1 mmHg, range 4–18). To evaluate the size of the lateral and fourth ventricles, we performed CT scans of the brain on each child. Abnormal scans were found in 15/37 children, showing brain atrophy (12/37), ventriculomegaly (3/37), and focal infarction (1/37). Cerebral atrophy was more likely to occur in young children (P