ライフサイエンスコーパス: autism

1 frequent transitions predict the severity of autism.

2 ues to treat bone fractures in children with autism.

3 ccessfully classify patients with or without autism.

4 involvement of hundreds of gene variants in autism.

5 tically characterizing more complex cases of autism.

6 w studies have detailed the basal ganglia in autism.

7 ork for the early, post-natal development of autism.

8 of spine abnormalities being associated with autism.

9 equently related to other conditions besides autism.

10 offspring (F2) would be at increased risk of autism.

11 a loss of function in the pathophysiology of autism.

12 is altered in psychiatric disorders such as autism.

13 ss of functional FMRP, is a leading cause of autism.

14 man disorders, including CHARGE syndrome and autism.

15 mpairment in schizophrenia and some forms of autism.

16 of this reciprocity is a cardinal symptom of autism.

17 at are independently predictive of diagnosed autism.

18 ther symptoms including disordered sleep and autism.

19 nomonically impaired in children affected by autism.

20 e form of intellectual impairment, including autism.

21 >4,700 cancer genomes and genes involved in autism.

22 e repetitive movements and limbic changes of autism.

23 rks is "idiosyncratic" in an individual with autism.

24 vior and is implicated in social symptoms of autism.

25 therapeutic intervention in individuals with autism.

26 idence of specific learning disabilities and autism.

27 orders as epilepsy, Alzheimer's disease, and autism.

28 movement disorder, developmental delay, and autism.

29 ood and risk of developing schizophrenia and autism.

30 ed with symptom severity in individuals with autism.

31 ay bear relevance to synaptic dysfunction in autism.

32 ays for 106 individuals with low functioning autism (87 boys, 14.77 +/- 3.11 years) for 0.5-6 years (

33 e novo putative loss-of-function variants in autism-affected families, ALoFT distinguishes between de

34 g schizophrenia, bipolar disorder, epilepsy, autism, Alzheimer's disease, and Parkinson's disease, an

35 Polygenic risk of autism and ADHD is associated with number of children.

36 f neurodevelopmental disorders, particularly autism and attention-deficit hyperactivity disorder.

37 ing the monitoring of disease states such as autism and chronic diseases involving oxidative stress t

38 europeptide Y+ neurons between subjects with autism and controls.

39 rovide insight into the early development of autism and have shown that characteristic social deficit

40 ween 2 striatal pathways in a mouse model of autism and indicate that the indirect striatal pathway d

41 Bipolar disorder, schizophrenia, autism and intellectual disability are complex neurodeve

42 the same region is strongly associated with autism and is less common in schizophrenia cases than in

43 naptic cell-adhesion molecules implicated in autism and other neuropsychiatric disorders.

44 inical disorders, including psychopathy, and autism and schizophrenia spectrum disorders, have been l

45 the context of psychiatric disorders such as autism and schizophrenia, a new promising pharmaceutical

46 ociated with neurological disorders, such as autism and schizophrenia, this signaling cascade offers

47 diseases including brain trauma, epilepsies, autism and schizophrenia.

48 mber variations of which are associated with autism and schizophrenia.

49 ia, including obsessive-compulsive disorder, autism, and alcoholism, occur more frequently in ALS kin

50 ng attention deficit/hyperactivity disorder, autism, and schizophrenia.

51 ngth and is relevant to learning and memory, autism, and sensitization to cocaine; however, the mecha

52 strongly implicated as a monogenic cause of autism, and Shank3 mutant mice show repetitive grooming

53 nes associated with intellectual disability, autism, and/or epilepsy were identified: 2p16.1-p15 dupl

54 hieved 84% and 81% accuracies for predicting autism- and Parkinson's-implicated genes, respectively,

55 depression, schizophrenia, bipolar disorder, autism, anxiety and attention deficit/hyperactivity diso

56 s that Fragile X syndrome and other types of autism are associated with immune system defects.

57 e demonstrated that the defining features of autism are not present in the first year of life but eme

58 We discovered that one autism-associated de novo mutation in TGEF1 (K1431M), at

59 avior due to knockout of Nrxn1, an analog of autism-associated gene NRXN, exhibited marked LA-MeA def

60 and nucleus ambiguus (nAmb) that express the autism-associated MET receptor tyrosine kinase.

61 systematically examined the effect of three autism-associated mutations, the neuroligin-3 knockout,

62 we found that adult male mice expressing the autism-associated SERT Ala56 variant have altered centra

63 15 high-risk infants who were diagnosed with autism at 24 months.

64 g to neurodevelopmental disorders, including autism, attention-deficit/hyperactivity disorder, and sc

65 ities selective for oxytocin nonapeptide, an autism biomarker, were designed.

66 e variants that predispose to schizophrenia, autism, bipolar disorder, major depression and attention

67 hat there is a link between synaesthesia and autism but the nature of that link remains poorly charac

68 eurodevelopmental endophenotype not only for autism, but also for population-wide variation in social

69 Mutations in neuroligin-3 predispose to autism, but how such mutations affect synaptic function

70 n neuroligin genes have been associated with autism, but the cellular functions of different neurolig

71 Studies of infants at high familial risk of autism can provide insight into the early development of

72 development in infants later diagnosed with autism, characterized by cortical surface area hyper-exp

73 re differentially decreased in children with autism (chi(2) = 64.03, P < 0.0001).

74 volume variability, although independent of autism diagnosis.

75 Of the 12 RRBs measured by the Autism Diagnostic Interview-Revised, seven were found to

76 We also found correlations between Autism Diagnostic Observation Schedule scores and the de

77 airments in social affect as measured by the Autism Diagnostic Observation Schedule.

78 y cued to look at the eyes, 2-year-olds with autism did not look away faster than did typically devel

79 X syndrome (FXS), the most common heritable autism disorder.

80 TSC patients with autism display impairments in white matter integrity.

81 Importantly, several mutations that cause autism disrupt this process.

82 velopmental brain and behavior mechanisms in autism during infancy, a period which precedes the emerg

83 are monogenic syndromes highly comorbid with autism - fragile X and tuberous sclerosis types 1 and 2

84 These differences become more pronounced for autism genes (p = 1.8 x 10(-3), OR = 2.2).

85 the Simons Simplex Collection (SSC) and the Autism Genetic Resource Exchange (AGRE) cohorts of child

86 g into account the familial structure of the Autism Genetic Resource Exchange data, we then determine

87 ges and opportunities for the translation of autism genetics knowledge into clinical practice.

88 m two of the largest ASD family cohorts, the Autism Genetics Resource Exchange and Autism Genome Proj

89 pleiotropy are pervasive characteristics of autism genetics.

90 s, the Autism Genetics Resource Exchange and Autism Genome Project (AGP).

91 was adopted to examine two groups (16 in the autism group and 15 in the control group) of Chinese chi

92 Children suffering from autism have been reported to have low bone mineral densi

93 ies reveal that tonal language speakers with autism have enhanced neural sensitivity to pitch changes

94 istic probands, who are at elevated risk for autism, have demonstrated that the defining features of

95 ar, one variant identified in a patient with autism, human GluN2B S1415L, displayed reduced surface e

96 k of ASD and intellectual disability without autism (ID).

97 ological activation may increase the risk of autism in the child.

98 Of 1624 patients with autism included in this study, 1299 were boys (80%) and

99 ome (FXS), a major disorder characterized by autism, intellectual disability, hyperactivity, and seiz

100 ith severe ASD who were treated at Ontario's Autism Intervention Program.

101 IRR, 9.45; 95% CI, 5.64-14.69) and childhood autism (IRR, 8.94; 95% CI, 3.21-19.23).

102 Autism is a prevailing neurodevelopmental disorder with

103 Higher polygenic risk of autism is associated with fewer children and older age a

104 xpanding number of genes that are mutated in autism is showing us how imbalances in fundamental cellu

105 ause a frequent and highly penetrant type of autism linked to increased gene dosages of UBE3A, which

106 members and helped rationalize the impact of autism-linked mutations.

107 Recently, we characterized a de novo autism-linked UBE3A mutant (UBE3A(T485A)) that disrupts

108 ivo knockdown or conditional knockout of the autism-linked ubiquitin ligase RNF8 or associated ubiqui

109 auses of neurodevelopmental diseases such as autism, linking genetic association studies to specific

110 fied as persons with schizophrenia (N=3540), autism (N=16 146), attention-deficit/hyperactivity disor

111 ocial cues for eye-looking, 2-year-olds with autism neither shifted their gaze away nor more subtly a

112 ich have been reported to be associated with autism, Parkinson's disease and schizophrenia, respectiv

113 projection neurons, as a potential locus for autism pathology.

114 ysfunctions could contribute to nonsyndromic autism pathophysiology using induced pluripotent stem ce

115 tative behavioral traits associated with the autism phenotype.

116 Individuals with higher Autism Quotient (AQ) scores cooperated less than subject

117 ly cited to explain a diagnostic hallmark of autism: reduced attention to others' eyes.

118 ychosis, suicide, depression, alcoholism, or autism (relative risk [RR], 1.50; 95% CI, 1.08-2.17; P =

119 the identification of genes associated with autism, research emerging within the past two decades su

120 me, the most common known monogenic cause of autism, results from the loss of FMR1, a conserved, ubiq

121 th new observations from genetically defined autism risk alleles and rodent model, these findings sug

122 2000-2007 who were enrolled in the Childhood Autism Risks from Genetics and the Environment (CHARGE)

123 d found that three variants in patients with autism (S1415L) or schizophrenia (L1424F and S1452F) (S1

124 sociated with psychiatric conditions such as autism, schizophrenia, and posttraumatic stress disorder

125 esents a sensory filter that is disrupted in autism, schizophrenia, and several other mental disorder

126 sons of cognition, adaptive functioning, and autism severity scores between these groups demonstrated

127 Theoretically, autism should be underpinned by aberrant brain dynamics.

128 The MMR and ITPC data from the children with autism showed evidence for lack of categorical perceptio

129 potential cause of tactile defensiveness in autism.SIGNIFICANCE STATEMENT We use a novel paradigm of

130 being a common complaint in individuals with autism, specific sleep phenotypes and their relationship

131 a recently introduced diagnostic feature of autism spectrum conditions (ASC).

132 er risk for intellectual disability (ID) and autism spectrum disorder (ASD) and affects an estimated

133 Clinical overlap between autism spectrum disorder (ASD) and attention-deficit/hyp

134 mmon monogenic and highly penetrant cause of autism spectrum disorder (ASD) and intellectual disabili

135 Autism spectrum disorder (ASD) and obsessive-compulsive

136 We sequenced 689 participants with autism spectrum disorder (ASD) and other developmental a

137 s neurodevelopmental disorders, particularly autism spectrum disorder (ASD) and schizophrenia (SCZ).

138 psychiatric disorders with high comorbidity: autism spectrum disorder (ASD) and Tourette syndrome (TS

139 Autism spectrum disorder (ASD) describes a group of neur

140 eviously reported that infants who developed autism spectrum disorder (ASD) had increased cerebrospin

141 Genetic risk factors for autism spectrum disorder (ASD) have yet to be fully eluc

142 the association between maternal smoking and autism spectrum disorder (ASD) in offspring have produce

143 The core symptoms of autism spectrum disorder (ASD) include impaired social c

144 Autism spectrum disorder (ASD) is 2 to 5 times more comm

145 Autism spectrum disorder (ASD) is a behaviorally defined

146 Autism spectrum disorder (ASD) is a complex neurodevelop

147 Autism spectrum disorder (ASD) is a developmental disabi

148 Autism spectrum disorder (ASD) is a developmental disord

149 Autism spectrum disorder (ASD) is a heterogeneous group

150 Autism spectrum disorder (ASD) is a neurodevelopmental d

151 Autism spectrum disorder (ASD) is associated with physio

152 Autism spectrum disorder (ASD) is characterized by ritua

153 Autism spectrum disorder (ASD) is characterized by socia

154 Autism spectrum disorder (ASD) is frequently associated

155 Autism spectrum disorder (ASD) is known to be more preva

156 Data indicate that the prevalence of autism spectrum disorder (ASD) may be increasing and tha

157 dysfunction and the high male prevalence in autism spectrum disorder (ASD) remain poorly understood.

158 Autism spectrum disorder (ASD) risk is influenced by com

159 Individuals with Autism Spectrum Disorder (ASD) seem to have difficulties

160 ing whole-genome sequencing of families with autism spectrum disorder (ASD) to build a resource (MSSN

161 rrently, there is no effective treatment for autism spectrum disorder (ASD), a developmental disabili

162 tor MEF2C regulates multiple genes linked to autism spectrum disorder (ASD), and human MEF2C haploins

163 bility (ID) and are strongly associated with autism spectrum disorder (ASD), attention deficit hypera

164 change are among the diagnostic criteria for autism spectrum disorder (ASD), but little research has

165 hannel NaV1.2 are important risk factors for autism spectrum disorder (ASD), developmental delay, and

166 n in at least a subgroup of individuals with autism spectrum disorder (ASD), including in those with

167 Individuals with autism spectrum disorder (ASD), including those who othe

168 pmental process are seen in individuals with autism spectrum disorder (ASD), schizophrenia and intell

169 Fine motor skill impairments are common in autism spectrum disorder (ASD), significantly affecting

170 Within autism spectrum disorder (ASD), some work has used pupil

171 rce Exchange (AGRE) cohorts of children with autism spectrum disorder (ASD), we find strong statistic

172 nal disturbances are common in children with autism spectrum disorder (ASD), we sought to define the

173 ioral phenotypes.SIGNIFICANCE STATEMENT Many autism spectrum disorder (ASD)-linked mutations disrupt

174 Recent studies suggest that autism spectrum disorder (ASD)-related behavioral phenot

175 to increase the risk for children to develop autism spectrum disorder (ASD).

176 ANK3 gene have been associated with risk for autism spectrum disorder (ASD).

177 ring pregnancy is known to increase risk for autism spectrum disorder (ASD).

178 to maternal FA and pesticides in relation to autism spectrum disorder (ASD).

179 tic development, but functions atypically in autism spectrum disorder (ASD).

180 the regulation of glutamatergic synapses in autism spectrum disorder (ASD).

181 mplicate the serotonin transporter (SERT) in autism spectrum disorder (ASD).

182 few studies have examined associations with autism spectrum disorder (ASD).

183 on in neuropsychiatric conditions, including autism spectrum disorder (ASD).

184 d 5-HT levels and may influence the risk for autism spectrum disorder (ASD).

185 ntifying phenotype-genotype relationships in autism spectrum disorder (ASD).

186 1A) gene was implicated as a risk factor for autism spectrum disorder (ASD).

187 der with comparatively high co-occurrence of autism spectrum disorder (ASD).

188 y factor influencing perceptual abilities in autism spectrum disorder (ASD).

189 ciated with intellectual disability (ID) and autism spectrum disorder (ASD).

190 ical frequency ranges develops atypically in autism spectrum disorder (ASD).

191 PTEN is mutated in a subset of children with autism spectrum disorder (ASD); however, the mechanism b

192 h improved outcomes for children with severe autism spectrum disorder (ASD); however, there are long

193 tational age (OR, 1.01 [95% CI, 0.81-1.25]), autism spectrum disorder (HR, 0.83 [95% CI, 0.62-1.13]),

194 was somewhat elevated for ADHD with comorbid autism spectrum disorder (OR, 1.76; 95% CI, 1.37-2.26).

195 4), anencephaly (AOR 2.9, 95% CI: 1.0, 8.2), autism spectrum disorder [AOR 1.3, 95% credible interval

196 npatient or outpatient clinical diagnosis of autism spectrum disorder and attention-deficit/hyperacti

197 ain comorbid developmental conditions (i.e., autism spectrum disorder and congenital malformations),

198 gene previously found to be associated with autism spectrum disorder and epilepsy.

199 id-pregnancy serum samples: association with autism spectrum disorder and intellectual disability.

200 and provide insight into the pathogenesis of autism spectrum disorder and intellectual disability.

201 h interactive domain 1B (ARID1B) gene causes autism spectrum disorder and intellectual disability; ho

202 robiota to neurobehavioral diseases, such as autism spectrum disorder and major depression, drawing u

203 People with autism spectrum disorder and other neurodevelopmental di

204 d in synaptic homoeostasis are implicated in autism spectrum disorder and sleep-wake control.

205 Exclusion of ADHD cases with comorbid autism spectrum disorder attenuated but did not explain

206 d a weak but significant association between autism spectrum disorder diagnosis and increased cerebel

207 ought to determine a combined effect size of autism spectrum disorder diagnosis on different measures

208 estational age OR, 1.15 [95% CI, 1.06-1.25]; autism spectrum disorder hazard ratio [HR], 2.02 [95% CI

209 Child autism spectrum disorder identified after the age of 2 y

210 red with no exposure was not associated with autism spectrum disorder in the child.

211 has been associated with increased risk for autism spectrum disorder in the offspring.

212 The male bias in autism spectrum disorder incidence is among the most ext

213 Autism spectrum disorder is a debilitating condition wit

214 The description of such changes in autism spectrum disorder may clarify pathomechanisms and

215 een unequivocally linked to diseases such as autism spectrum disorder or epilepsy.

216 een described in individuals presenting with autism spectrum disorder or mild intellectual disability

217 al stage, stronger genetic links with either autism spectrum disorder or schizophrenia.

218 The neuroanatomical bases of autism spectrum disorder remain largely unknown.

219 nsight into the neural substrates underlying autism spectrum disorder social symptom severity, and fu

220 mpared with unexposed siblings (incidence of autism spectrum disorder was 3.40 per 1000 person-years

221 The incidence of autism spectrum disorder was 4.51 per 1000 person-years

222 vious observations of a higher risk of child autism spectrum disorder with serotonergic antidepressan

223 ed together in typical and atypical (notably autism spectrum disorder) groups: imitation, biological

224 f syndromic intellectual disability (ID) and autism spectrum disorder, and somatic mutations are link

225 populations - specifically, individuals with autism spectrum disorder, ASD - may further illuminate s

226 tric and neurodegenerative diseases, such as autism spectrum disorder, depression and Alzheimer's dis

227 higher rates than UK controls of symptoms of autism spectrum disorder, disinhibited social engagement

228 ificantly enriched for genes associated with autism spectrum disorder, giving support to the idea tha

229 omatin-remodeling subunit, in short stature, autism spectrum disorder, intellectual disability, and c

230 ity in the etiology across schizophrenia and autism spectrum disorder, PVI circuits are altered in th

231 oter, enriched in subgroups of children with autism spectrum disorder, reduces transcription and disr

232 es of many neurological disorders, including autism spectrum disorder, schizophrenia, and Alzheimer's

233 it/hyperactivity disorder, eating disorders, autism spectrum disorder, substance use disorders, anxie

234 mutations have recently been associated with autism spectrum disorder, which parallels previous evide

235 fficulties that enhance the understanding of autism spectrum disorder- and schizophrenia-related dime

236 been linked to neurological diseases such as autism spectrum disorder.

237 me, epilepsy, major depressive disorder, and autism spectrum disorder.

238 ocial signal was altered in individuals with autism spectrum disorder.

239 cluding schizophrenia, bipolar disorder, and autism spectrum disorder.

240 attention-deficit/hyperactivity disorder and autism spectrum disorder.

241 ation increases the likelihood of developing autism spectrum disorder.

242 sability, and the most common known cause of autism spectrum disorder.

243 n deficit/hyperactivity disorder (ADHD), and autism spectrum disorder.

244 ly presents with intellectual disability and autism spectrum disorder.

245 rapies to help ameliorate social deficits in autism spectrum disorder.

246 area affected in both fragile X syndrome and autism spectrum disorder.

247 many neurodevelopmental disorders including autism spectrum disorder; however, little is known about

248 Autism spectrum disorders (ASD) and attention-deficit/hy

249 n are part of the phenotypic overlap between autism spectrum disorders (ASD) and schizophrenia.

250 Autism spectrum disorders (ASD) are characterized by imp

251 Autism spectrum disorders (ASD) are common, complex and

252 Over 70% of the children with autism spectrum disorders (ASD) are positive for these a

253 The number of diagnosed cases of Autism Spectrum Disorders (ASD) has increased dramatical

254 nly implicated factors in neurodevelopmental autism spectrum disorders (ASD), characterized, in part,

255 tor 5 (mGluR5) have therapeutic potential in autism spectrum disorders (ASD), including tuberous scle

256 the neurodevelopmental deficits observed in autism spectrum disorders (ASD).

257 Risk (HR or LR, respectively) for developing Autism Spectrum Disorders (ASD).

258 eurotypical adults and may increase risk for autism spectrum disorders (ASD).

259 rome (FXS) is the leading monogenic cause of autism spectrum disorders (ASD).

260 Autism spectrum disorders (ASDs) and obsessive compulsiv

261 have been described in some individuals with autism spectrum disorders (ASDs) as well as their family

262 een prenatal exposure to antidepressants and autism spectrum disorders (ASDs) in children, with incon

263 The male bias in the incidence of autism spectrum disorders (ASDs) is one of the most nota

264 coding polymorphism has been associated with autism spectrum disorders (ASDs) within a subgroup of pa

265 sory hypersensitivity is a common symptom in autism spectrum disorders (ASDs), including fragile X sy

266 itrk5 and Shank3, reported models of OCD and autism spectrum disorders (ASDs).

267 ne product E6AP protein is a common cause of autism spectrum disorders (ASDs).

268 ining 1 (PTCHD1) is mutated in patients with autism spectrum disorders and intellectual disabilities

269 hat these rearrangements are associated with autism spectrum disorders and mirror phenotypes of obesi

270 This pattern was strongest in autism spectrum disorders and schizophrenia, and weakest

271 human Shank copy number variations (CNVs) on Autism spectrum disorders and schizophrenia.

272 tiple neurodevelopmental disorders including autism spectrum disorders and schizophrenia.

273 ed clusters for enrichment of schizophrenia, autism spectrum disorders, developmental delay and intel

274 tive immune system function is implicated in autism spectrum disorders, including Fragile X syndrome.

275 ation carriers from mothers of children with autism spectrum disorders, the comparison group.

276 understanding of the complex neurobiology of autism spectrum disorders, valid disease models are pivo

277 translation of dyrk1a, a Down syndrome- and autism spectrum disorders-related gene, is dependent on

278 standing DA developmental conditions such as autism spectrum disorders.

279 d to human hyperekplexia/startle disease and autism spectrum disorders.

280 es or contribute to the pathogenesis of some autism spectrum disorders.

281 ritable cause of intellectual disability and autism spectrum disorders.

282 s neuromotor deficits in startle disease and autism spectrum disorders.

283 ctions with central molecular hubs linked to autism spectrum disorders.

284 ar disease states such as CHARGE syndrome or autism spectrum disorders.

285 eneration of epilepsy, neuropathic pain, and autism spectrum disorders; thus, it is important to char

286 The AQ (Autism-Spectrum Quotient) scores were elevated in the sy

287 ta were collected in 86 2-year-olds: 26 with autism, tested at initial diagnosis; 38 matched typicall

288 cellular bone phenotype in a mouse model of autism that can be further utilized to investigate thera

289 Here we have utilized a mouse model of autism that duplicates 6.3 Mb region of chromosome 7 (Dp

290 epilepsy, intellectual disability and often autism; the most frequently occurring mutation is G70S.

291 gh ubiquitin ligases have been implicated in autism, their roles and mechanisms in brain development

292 e utilized the Shank3B mutant mouse model of autism to investigate how Shank3 mutation may differenti

293 ng from neurodevelopmental disorders such as autism to neurodegenerative disorders such as Alzheimer'

294 interaction of psychopathic tendencies with autism traits was associated with a decrement in perform

295 hat correlate with individual differences in autism traits, as measured by the SRS.

296 eness Scale (SRS), a quantitative measure of autism traits.

297 Here we characterize brain dynamics in autism using an energy-landscape analysis applied to res

298 with damaging DNMs in probands with CHD and autism was also found.

299 pattern for speech and nonspeech stimuli in autism was due to a speech-specific deficit in categoric

300 theses about abnormal neural computations in autism, with an emphasis on hypotheses regarding potenti