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Objectives The current study aimed to investigate the psycho-phenotypic profile of an Egyptian sample with ADHD cases. Subjects & Methods Eighty cases diagnosed as ADHD (according to the DSMV) were enrolled in the current study. They were selected sequentially from those following up in the child and adolescent clinic, children hospital, Ain shams University. Results The ages of the enrolled sample ranged between 4&12 years. Males were (86%) and Female (14%) with ratio 7:1. Consanguinity rate was (25%) while positive family history was (12%). Perinatal insult was detected in (22%). Inattentive ADHD was seen in 90% of cases while combined type in 10%. According to Conner’s parents’ scale (5%) had mild, (25%) moderate and (70%) severe ADHD symptoms. Comorbid conditions were seen as follows; Delayed language development (30%), stuttering (9%), delayed bladder control (15%), pica (2%), polyphagia (2%), sleep disorders [nightmares (4%), insomnia (9%), somnambulism (3%)], poor academic performance (95%), dyslexia (15%), dysgraphia (18%), conduct disorder (5%) and aggression (12%). Conclusion The current study delineated that there are so many phenotypic variation in Egyptian ADHD cases. This high-lightened the importance of individual assessment of such cases in order to configure the subtype, severity and identification of possible comorbidity. This enable the clinicians to individualize a treatment plan for each patient aiming at better outcome.

This study aimed to detect DRD4 receptor gene polymorphisms in attention-deficit hyperactivity disorder (ADHD) children and to correlate their phenotype-genotype. Fifty children with ADHD were diagnosed by Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition, criteria and were subjected to Conners Parent Rating Scale. All cases and controls were subjected to history taking, physical examination, IQ assessment, and dopamine receptor D4 (DRD4) exon 3 genotyping. The 7-repeat allele was present only in controls, whereas 2-repeat allele was present in the ADHD children (heterozygous 2-repeat allele in 16% and homozygous in 26% of cases). Eight percent of cases had homozygous 4-repeat allele vs 28% of controls, whereas 10% of cases had heterozygous 4-repeat allele vs 6% of controls, with its predominance in controls. The 2-repeat and 4-repeat alleles have been associated with more inattention, hyperactivity, and impulsivity phenotypes. In conclusion, children with ADHD had a significant presence of the 2-repeat allele and absence of the 7-repeat allele.

BackgroundAlthough there is a recommendation that toddlers be screened for Autism spectrum disorder (ASD) during their 18- and 24-month well-care child visits, diagnosis often occurs well after the child turns 4 years old. Such delayed diagnosis hinders the implementation of early intervention thus worsens the long-term prognosis of ASD.ObjectivesThe current community-based study in its stage I aimed at early screening of Egyptian toddlers for ASD using an Arabic validated version of Modified Checklist for Autism in Toddlers (M-CHAT).MethodologyA cross-sectional community-based descriptive study was carried out enrolling 5546 Egyptian toddlers. They were randomly recruited from those attending Primary Health Care Units in six Egyptian governorates with a fair representation of the urban, semi-urban, and rural Egyptian populations. An Arabic validated version of M-CHAT was used as a screening tool for ASD.ResultsThe current study revealed failure of M-CHAT (suspected to have ASD and needs further evaluation) in 1320 out of the enrolled 5546 Egyptian toddlers (23.8%).ConclusionsM-CHAT as a screening tool for ASD has flagged a considerable percent of the enrolled toddlers that necessitates referral for further evaluation (stage II) to settle the diagnosis of ASD in the true positive cases. Perfecting the delicate balance between sensitivity and specificity for ASD screening tools is crucial in order not to miss early detection of ASD cases and at the same time, to avoid over-diagnosis with subsequent abuse of the limited healthcare resources in developing countries.

Background Attention deficit hyperactivity disorder (ADHD) is a common neurodevelopmental disorder with associated mineral deficiency. Aim To assess magnesium level in ADHD children and compare it to the normal levels in children. Then, to detect the effect of magnesium supplementation as an add on therapy, on magnesium deficient patients. Methods The study was conducted on 25 patients with ADHD and 25 controls. All subjects had magnesium estimation in serum and hair. ADHD children were further assessed by Wechsler intelligence scale for children, Conners’ parent rating scale, and Wisconsin card sorting test. Then magnesium deficient patients were assigned into 2 groups, those who received magnesium, and those who did not. The difference between the studied groups was assessed by Conners’ parents rating scale and Wisconsin card sorting test. Results Magnesium deficiency was found in 18 (72%) of ADHD children. The magnesium supplemented group improved as regards cognitive functions as measured by the Wisconsin card sorting test and Conners’ rating scale. The patients reported minor side effects from magnesium supplementation. Conclusion Magnesium supplementation in ADHD, proves its value and safety.

Purpose Nocturnal enuresis is defined as the involuntary voiding of urine in bed beyond the age at which bladder control is normally obtained. Previous studies have suggested a high rate of obesity in children with nocturnal enuresis. We evaluated this hypothesis and investigated the correlation between body mass index and the efficacy of treatment. Subjects and methods This was a prospective–longitudinal study done on 180 children with primary mono symptomatic nocturnal enuresis. Urinary diary data and body mass index percentile were determined. Response to the treatment was evaluated statistically and correlated with body mass index percentile. Response to different modalities of the treatment were also statistically evaluated separately and correlated with the BMI. The statistical test used was ANOVA F-test. Results 22.7% of our patients with nocturnal enuresis were either overweight or obese (13.9% and 7.8% respectively) according to the Egyptian national growth charts. Therefore, the prevalence of overweight and obesity is not higher in children with nocturnal enuresis as compared to the overall prevalence in normal Egyptian children (14%). But when we adjusted these values according to the social class of our patients, the prevalence of obesity was higher than normal for children of low socioeconomic status. There was no significant correlation between response to standard pediatric urological interventions (behavioral therapy, alarm therapy, imipramine, desmopressin, oxybutynin and tolterodine) and the BMI of our patients. Also, there was no significant difference in the response or relapse rates to the different modalities of therapies in the groups of patients with different BMI. Conclusions Obesity correlates with high BMI in lower socioeconomic classes, but does not correlate with efficacy of the treatment in children with nocturnal enuresis.

Goldenhar syndrome is a congenital condition that is associated with abnormalities of the head and the bones of the spinal column. The abnormalities of the head can include anomalies of the eyes, ears, facial bones, and mouth. These anomalies are extremely variable in severity. The exact cause of Goldenhar syndrome remains unknown. The etiology of this rare disease is not fully understood, as it has shown itself variable genetically and of unclear causes. This work reports a case of Goldenhar syndrome in a 1-year-old female, who presented some of the classical signs of this rare condition including Hemifacial Microsomia, epibulber dermoid tumor and preauricular skin tags. However, vertebral anomalies, deafness, renal and cardiac anomalies were absent. Skin tags on the anterior chest wall were reported in this patient for the first time.Keywords: Hemifacial Microsomia; Oculo–Auriculo–Vertebral Dysplasia; Epibulber dermoid tumor; Goldenhar syndrome

Background: Enuresis is defined as a normal void occurring at an inappropriate social time or place. The treatment approach for enuresis is controversial due to a lack of consensus as to the exact causes of nocturnal enuresis.Aim: Aim was to assess the efficacy of desmopressin therapy in the treatment of PrimaryMonosymptomatic Nocturnal Enuresis (PMNE) in Egyptian children.Method: The study assessed 40 children aged 6–15 years suffering from PMNE. They were divided into 2 groups; Group 1 (20 patients) were on desmopressin tablets (0.2 mg) once daily before bedtime for 8 weeks in addition to behavioral modifications. Group 2 received only behavioral modifications. Both groups were followed up for 8 weeks of treatment, and then another 8 weeks to detect relapse.Results: The wetting frequency decreased during treatment by 70% in Group 1 and 65% in Group 2. However, this difference was not statistically significantly different. The complete and partial response rates were 45% and 25% respectively in Group 1 and were 35% and 30% respectively in Group 2.Conclusion: There is a highly significant decrease in wet nights in response to either desmopressin or behavioral therapy. However, the difference is not statistically significant. Also, it was found that relapsers (mainly early relapsers) are significantly more encountered in patients treated by desmopressin.KEYWORDS: Nocturnal enuresis; Efficiency; Desmopressin; Relapse

Background and Aims. The etiological factors involved in the etiology of autism remain elusive and controversial, but both genetic and environmental factors have been implicated. The aim of this study was to assess the levels and possible environmental risk factors and sources of exposure to mercury, lead, and aluminum in children with autism spectrum disorder (ASD) as compared to their matched controls.Methods. One hundred ASD children were studied in comparison to 100 controls. All participants were subjected to clinical evaluation and measurement of mercury, lead, and aluminum through hair analysis which reflects past exposure.Results. The mean Levels of mercury, lead, and aluminum in hair of the autistic patients were significantly higher than controls. Mercury, lead, and aluminum levels were positively correlated with maternal fish consumptions, living nearby gasoline stations, and the usage of aluminum pans, respectively.Conclusion. Levels of mercury, lead, and aluminum in the hair of autistic children are higher than controls. Environmental exposure to these toxic heavy metals, at key times in development, may play a causal role in autism.