BACKGROUND:Beta thalassemia major is considered one of the serious health problems and the commonest hemoglobinopathy in Egypt that creates a burden not only on health system but also on the affected families and children who become vulnerable to emotional, social, psychological and behavioural problems.AIM:This study was designed to assess the psychosocial burden and the adaptive functioning in children with beta-thalassemia major.SUBJECTS AND METHODS:A group of 50 children with thalassemia major and 50 normal children matched for age and sex were included in a case-control study. Vineland Adaptive Functioning Scale was used to assess the adaptive functions; while the Pediatric Symptom Checklist (PSCL) was used to assess psychosocial morbidity.RESULTS:A group of 50 children aged 5-17 years old with thalassemia major, their mean age was 11.05 ± 3.8, showed a statistically significant lower total adaptive behaviour score and communication subscale score. All the mean values of adaptive behaviour for cases and controls were within the average values. Results from the PSCL revealed no significant difference between mean scores of children with thalassemia and controls. A score of attention domain was markedly higher in children with thalassemia. Internalising behaviour was the most dominant as it was detected in 10% of the patient group.CONCLUSION:Thalassemic patients had a relatively mild affection for adaptive and psychosocial functioning that can be explained by social and medical support they receive, which may increase their competence and psychological wellbeing.

Febrile seizure is one of the most common neurological problems during childhood. The etiology and pathogenesis of febrile seizure remain unknown. However, several factors such as vitamin B6 deficiency, electrolyte disturbances, and reduction in serum zinc, selenium, magnesium levels, and low gamma -aminobutyric acid (GABA) levels are thought to play a role in the pathogenesis of febrile seizure. The present study included twenty children from 10 families, 11 were male and 9 were female. Each family has at least 2 members with a history of febrile convulsion. All cases were subjected to the following: Determination of serum levels of copper, zinc, magnesium, selenium level in serum, and plasma level of γ-aminobytaric acid (GABA). Serum levels of selenium and GABA were statistically significantly low in comparison with controls. Serum copper was statistically significantly higher in cases than controls, while serum zinc showed no significant changes in the cases of febrile convulsion compared with the control group. The mean Zn level in the serum of febrile convulsion was found to be at lower level than in the control group. The serum magnesium was significantly low in cases than controls. The logistic regression model in our study shows that Selenium and Magnesium have protective effects, while Copper has causative effect.

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Biallelic mutations in the PLCB1 gene, encoding for a phospholipase C beta isoform strongly expressed in the brain, have been reported to cause infantile epileptic encephalopathy in only four children to date. We report here three additional patients to delineate the phenotypic and genotypic characteristics of the disease. Our three patients were one sporadic case with an intragenic homozygous deletion and two cousins with the homozygous p.(Arg222*) nonsense variant in PLCB1. These patients had severe to profound intellectual disability, epileptic spasms at age 3‐5 months concomitant with developmental arrest or regression, other seizure types and drug‐resistant epilepsy. With this report, we expand the clinical, radiologic and electroencephalographic knowledge about the extremely rare PLCB1‐related encephalopathy. Since the first report in 2010, the overall number of reported patients with our additional patients is currently limited to seven. All seven patients had epileptic encephalopathy, mainly infantile spasms and 6/7 had profound intellectual disability, with one only being able to walk. Truncal hypotonia was the most frequent neurological sign, sometimes associated with pyramidal and/or extrapyramidal hypertonia of limbs. Microcephaly was inconstant. In conclusion, the phenotypical spectrum of PLCB1‐related encephalopathy is relatively narrow, comprises infantile spasms and severe to profound intellectual disability, and does not seem to define a recognizable clinical entity.

We conducted the present study to examine cognitive function and serum heat shock protein 70 levels among children with temporal lobe epilepsy. The Stanford-Binet Intelligence Test was carried out to examine cognitive function in 30 children with temporal lobe epilepsy and 30 controls. Serum heat shock protein 70 levels were determined with an enzyme-linked immunosorbent assay. The epilepsy group had significantly lower cognitive function testing scores and significantly higher serum heat shock protein 70 levels than the control group; there were significant negative correlations between serum heat shock protein 70 levels and short-term memory and composite scores. Children with uncontrolled seizures had significantly lower verbal reasoning scores and significantly higher serum heat shock protein 70 levels than children with controlled seizures. Children with temporal lobe epilepsy have cognitive dysfunction and elevated levels of serum heat shock protein 70, which may be considered a stress biomarker.