Severe Early-Onset Obesity and Diabetic Ketoacidosis due to a Novel Homozygous c.169C>T p.Arg57* Variant in CEP19 Gene.

Introduction: Early-onset severe obesity is usually the result of an underlying genetic disorder, and several genes have recently been shown to cause syndromic and nonsyndromic forms of obesity. The "centrosomal protein 19 (CEP19)" gene encodes for a centrosomal and ciliary protein. Homozygous variants in the CEP19 gene are extremely rare causes of early-onset severe monogenic obesity. Herein, we present a Turkish family with early-onset severe obesity with variable features. Methods: Sanger sequencing and whole-exome sequencing were performed to identify the genetic etiology in the family. Results: The index case was a 12-year-old female who presented with severe obesity (BMI of 62.7 kg/m2), metabolic syndrome, and diabetic ketoacidosis. Her nonidentical twin female siblings also had early-onset severe obesity, metabolic syndrome, and diabetes. In addition, one of the affected siblings had situs inversus abdominalis, polysplenia, lumbar vertebral fusion, and abnormal lateralization. A novel homozygous nonsense (c.169C>T, p. Arg57*) pathogenic variant was detected in exon 3 of the CEP19 gene in all affected members of the family. One unaffected sister and unaffected parents were heterozygous for the variant. This variant is predicted to cause a stop codon at amino acid sequence 57, leading to a truncated CEP19 protein. Discussion/Conclusion: Our study expands the phenotypical manifestations and variation database of CEP19 variants. The findings in one of our patients reaffirm its role in the assembly and function of both motile and immotile cilia.

functional outcome in late adolescence/early adulthood of patients with autism spectrum disorder and its relationships with parental burnout and depression: A preliminary multi-center, cross-sectional study.

The aim of this study is to determine the functioning of adults with autism spectrum disorders (ASDs) diagnosed in childhood and depression and burnout levels among their parents. A total of 261 adults with ASDs and their parents were recruited for the study. Both parents completed the Beck Depression and Maslach Burnout Inventories and reported the functioning of their adult offspring with ASDs. Only 5.4 % of our sample reported "good" or "very good" outcomes. The most common psychiatric comorbidities were intellectual disabilities and attention-deficit/hyperactivity disorder. Maternal burnout and depression scores were significantly elevated compared to those of fathers. There is an undeniable urgent need for more research to identify the needs of adults and families suffering from ASD. Modifications for those with ASD may have to be made for support in workplaces, achieving driving licenses, using public transportation and attendance at tertiary education.

Management and behavior-modifying recommendation effects in childhood headache.

BACKGROUND: Headaches are common in childhood. Recently, there has been an increasing trend toward pharmacological treatment. METHODS: Secondary causes were excluded first in patients who attended our clinic with headache. Those without a secondary cause were evaluated as primary headache and classified into subgroups. Behavior-modifying recommendations (adequate and regular sleep, adequate and regular nutrition, adequate fluid intake, and restriction of screen exposure) were given to all patients. Patients were re-evaluated at 1, 3, and 6 months. Pharmacologic treatment was started at the end of the first month with follow-up at the third and sixth months for those who did not benefit from the behavior-modifying recommendations. RESULTS: A total of 875 patients presented with headache complaints, of which 30.6% were evaluated as primary headache. Behavior-modifying recommendations were beneficial for 23.1% with migraine with aura; 20.3% with migraine without aura, and 36.8% with tension-type headache. CONCLUSION: Secondary causes should be excluded first in patients who present to the pediatric neurology clinic with headache. Behavioral modifications to change the lifestyle of patients diagnosed with primary headache should be tried before giving pharmacologic treatment.

Ubiquinone Levels as a Marker of Antioxidant System in Children with Attention Deficit Hyperactivity Disorder.

The aims of this study are to compare serum ubiquinone levels in children with attention deficit hyperactivity disorder (ADHD) with healthy controls and to investigate the correlation between ubiquinone levels of children with ADHD and their ADHD symptoms. Twenty-seven children who are 6-12 years old age with attention deficit hyperactivity disorder having clinically normal intelligence and 23 children with clinically normal intelligence and no psychiatric disorder of similar age and sex who referred to Ankara University School of Medicine Department of Child and Adolescent Psychiatry were included in this study. All children were diagnosed by same researcher using the Semi-Structured Clinical Interview for DSM-IV Scale for Affective Disorders and Schizophrenia Interview for School Children-Now and for the Life-Long Version (K-SADS-PL). Parents and teachers of the children completed the Conners Parent Rating Scale Revised Long Form (CPRS-LF) and Conners Teacher Rating Scale Revised Long Form (CTRS-LF). There were no statistically significant differences regarding the age, gender, and sociodemographic data of the groups. Serum ubiquinone levels of the ADHD group were significantly lower than the control group. We did not find any correlation between ubiquinone levels and clinical values. Since ubiquinone levels are lower in children with ADHD compared with controls, we suggest that decreased antioxidant levels may play a role in ADHD pathogenesis by disrupting oxidative balance.