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The possible involvement of genetic variants of NET1 in the etiology of attention‐deficit/hyperactivity disorder comorbid with oppositional defiant disorder 下载免费PDF全文
Lu Liu Jia Cheng Haimei Li Li Yang Qiujin Qian Yufeng Wang 《Journal of child psychology and psychiatry, and allied disciplines》2015,56(1):58-66
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Sex‐specific manifestation of genetic risk for attention deficit hyperactivity disorder in the general population 下载免费PDF全文
Joanna Martin Mark J. Taylor Mina Rydell Lucy Riglin Olga Eyre Yi Lu Sebastian Lundström Henrik Larsson Anita Thapar Paul Lichtenstein 《Journal of child psychology and psychiatry, and allied disciplines》2018,59(8):908-916
Background
Attention deficit hyperactivity disorder (ADHD) is more commonly diagnosed in males than in females. A growing body of research suggests that females with ADHD might be underdiagnosed or receive alternative diagnoses, such as anxiety or depression. Other lines of reasoning suggest that females might be protected from developing ADHD, requiring a higher burden of genetic risk to manifest the disorder.Methods
We tested these two hypotheses, using common variant genetic data from two population‐based cohorts. First, we tested whether females and males diagnosed with anxiety or depression differ in terms of their genetic risk for ADHD, assessed as polygenic risk scores (PRS). Second, we tested whether females and males with ADHD differed in ADHD genetic risk burden. We used three different diagnostic definitions: registry‐based clinical diagnoses, screening‐based research diagnoses and algorithm‐based research diagnoses, to investigate possible referral biases.Results
In individuals with a registry‐based clinical diagnosis of anxiety or depression, females had higher ADHD PRS than males [OR(CI) = 1.39 (1.12–1.73)] but there was no sex difference for screening‐based [OR(CI) = 1.15 (0.94–1.42)] or algorithm‐based [OR(CI) = 1.04 (0.89–1.21)] diagnoses. There was also no sex difference in ADHD PRS in individuals with ADHD diagnoses that were registry‐based [OR(CI) = 1.04 (0.84–1.30)], screening‐based [OR(CI) = 0.96 (0.85–1.08)] or algorithm‐based [OR(CI) = 1.15 (0.78–1.68)].Conclusions
This study provides genetic evidence that ADHD risk may be more likely to manifest or be diagnosed as anxiety or depression in females than in males. Contrary to some earlier studies, the results do not support increased ADHD genetic risk in females with ADHD as compared to affected males. 相似文献8.
Neurocognitive abilities in the general population and composite genetic risk scores for attention‐deficit hyperactivity disorder 下载免费PDF全文
Joanna Martin Marian L. Hamshere Evangelia Stergiakouli Michael C. O'Donovan Anita Thapar 《Journal of child psychology and psychiatry, and allied disciplines》2015,56(6):648-656
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A randomized controlled trial into the effects of neurofeedback,methylphenidate, and physical activity on EEG power spectra in children with ADHD 下载免费PDF全文
Tieme W. P. Janssen Marleen Bink Katleen Geladé Rosa van Mourik Athanasios Maras Jaap Oosterlaan 《Journal of child psychology and psychiatry, and allied disciplines》2016,57(5):633-644
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Comprehensive screening for monogenic diabetes in 89 Japanese children with insulin‐requiring antibody‐negative type 1 diabetes 下载免费PDF全文
Kikumi Ushijima Maki Fukami Tadayuki Ayabe Satoshi Narumi Misako Okuno Akie Nakamura Toshikazu Takahashi Kenji Ihara Kazuhiro Ohkubo Emiko Tachikawa Shoji Nakayama Junichi Arai Nobuyuki Kikuchi Toru Kikuchi Tomoyuki Kawamura Tatsuhiko Urakami Kenichiro Hata Kazuhiko Nakabayashi Yoichi Matsubara Shin Amemiya Tsutomu Ogata Ichiro Yokota Shigetaka Sugihara The Japanese Study Group of Insulin Therapy for Childhood Adolescent Diabetes 《Pediatric diabetes》2018,19(2):243-250
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A CACNA1D mutation in a patient with persistent hyperinsulinaemic hypoglycaemia,heart defects,and severe hypotonia 下载免费PDF全文
SE Flanagan F Vairo MB Johnson R Caswell TW Laver H Lango Allen K Hussain S Ellard 《Pediatric diabetes》2017,18(4):320-323
Congenital hyperinsulinaemic hypoglycaemia (HH) can occur in isolation or it may present as part of a wider syndrome. For approximately 40%‐50% of individuals with this condition, sequence analysis of the known HH genes identifies a causative mutation. Identifying the underlying genetic aetiology in the remaining cases is important as a genetic diagnosis will inform on recurrence risk, may guide medical management and will provide valuable insights into β‐cell physiology. We sequenced the exome of a child with persistent diazoxide‐responsive HH, mild aortic insufficiency, severe hypotonia, and developmental delay as well as the unaffected parents. This analysis identified a de novo mutation, p.G403D, in the proband's CACNA1D gene. CACNA1D encodes the main L‐type voltage‐gated calcium channel in the pancreatic β‐cell, a key component of the insulin secretion pathway. The p.G403D mutation had been reported previously as an activating mutation in an individual with primary hyper‐aldosteronism, neuromuscular abnormalities, and transient hypoglycaemia. Sequence analysis of the CACNA1D gene in 60 further cases with HH did not identify a pathogenic mutation. Identification of an activating CACNA1D mutation in a second patient with congenital HH confirms the aetiological role of CACNA1D mutations in this disorder. A genetic diagnosis is important as treatment with a calcium channel blocker may be an option for the medical management of this patient. 相似文献
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Neonatal diabetes mellitus (NDM) is a rare but potentially devastating metabolic disorder, with a reported incidence of one per 300 000–500 000 births generally, and hyperglycemia develops within the first 6 months of life. NDM is classified into two categories clinically. One is transient NDM (TNDM), in which insulin secretion is spontaneously recovered by several months of age, but sometimes recurs later, and the other is permanent NDM (PNDM), requiring lifelong medication. Recent molecular analysis of NDM identified at least 12 genetic abnormalities: chromosome 6q24, KCNJ11, ABCC8, INS, FOXP3, GCK, IPF1, PTF1A, EIF2AK3, GLUT2, HNF1β, and GLIS3. Of these, imprinting defects on chromosome 6q24 and the KCNJ11 mutation have been recognized as the major causes of TNDM and PNDM, respectively, in Caucasian subjects. Although the pathogenesis and epidemiology of NDM in Japan seem to be clinically distinct, they are still unclear. In this review, we summarize the epidemiology, clinical characteristics, and genetic etiology in Japanese patients with NDM compared with the data on Caucasian patients. 相似文献
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Low association between fasting and OGTT stimulated glucose levels with HbA1c in overweight children and adolescents 下载免费PDF全文
Stefan Ehehalt Susanna Wiegand Antje Körner Roland Schweizer Klaus‐Peter Liesenkötter Carl‐Joachim Partsch Gunnar Blumenstock Ulrike Spielau Christian Denzer Michael B. Ranke Andreas Neu Gerhard Binder Martin Wabitsch Wieland Kiess Thomas Reinehr 《Pediatric diabetes》2017,18(8):734-741
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Identifying mechanisms that underlie links between COMT genotype and aggression in male adolescents with ADHD 下载免费PDF全文
Stephanie H.M. van Goozen Kate Langley Clare Northover Kelly Hubble Katya Rubia Karen Schepman Michael C. O'Donovan Anita Thapar 《Journal of child psychology and psychiatry, and allied disciplines》2016,57(4):472-480
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