{"id":6030,"date":"2019-09-23T14:40:06","date_gmt":"2019-09-23T18:40:06","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6030"},"modified":"2020-05-05T17:38:40","modified_gmt":"2020-05-05T21:38:40","slug":"6030-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/chd8-2\/6030-2\/","title":{"rendered":""},"content":{"rendered":"

CHD8<\/em> intragenic deletion associated with autism spectrum disorder<\/strong><\/h2>\n

Original research article by E.S. Stolerman\u00a0et al.<\/em> (2016).<\/p>\n

Read the abstract here<\/a>.<\/p>\n

The work presented in this article adds to evidence that changes in the CHD8 gene can play a major role in autism. The researchers describe the clinical features observed in a 9-year-old boy with a de novo (not inherited from either parent) change in the\u00a0CHD8\u00a0gene. The investigators reviewed his medical history, beginning before birth, and generated a time line detailing concerns identified through his childhood.<\/p>\n

The child\u2019s early history was typical: he was born at full term, and there were no prenatal complications or major postnatal complications. Typical development behaviors, like making eye contact and otherwise interacting, continued until 9 months of age. At that time, the child stopped making good eye contact and became irritable, crying regularly. He also had delays in developmental milestones. For example, he did not sit until 9 months of age and did not begin walking until 18 months of age. An evaluation of his hearing at 23 months of age showed no abnormalities. At just over 2 years old, it was noted that his speech was not progressing typically and that his social interactions included aggressive behavior, poor eye contact and repetitive behaviors. Common features of the\u00a0CHD8\u00a0change that were observed in this child included gastrointestinal issues, increased head size, and dysmorphic features, while his height, weight, and head circumference were all normal for his age.<\/p>\n

The authors provide a comparison of this 9-year-old boy and 18 other children and adults with CHD8 changes. The tables below lists the features seen in each of these 19 people.<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Feature<\/strong><\/td>\nPatient<\/strong><\/td>\n<\/tr>\n
<\/td>\n1<\/strong><\/td>\n2<\/strong><\/td>\n3<\/strong><\/td>\n4<\/strong><\/td>\n5<\/strong><\/td>\n<\/tr>\n
Sex<\/td>\nM<\/td>\nM<\/td>\nF<\/td>\nF<\/td>\nM<\/td>\n<\/tr>\n
Age (yrs)<\/td>\n9<\/td>\n8<\/td>\n4<\/td>\n8<\/td>\n12<\/td>\n<\/tr>\n
Mutation<\/td>\nExons 26-28 Deletion<\/td>\nNonsense<\/td>\nDeletion truncating<\/td>\nSplice site<\/td>\nFrameshift indel<\/td>\n<\/tr>\n
Inheritance<\/td>\nDe novo<\/td>\nDe novo<\/td>\nDe novo<\/td>\nDe novo<\/td>\nDe novo<\/td>\n<\/tr>\n
Developmental Delay<\/td>\nY<\/td>\nY<\/td>\nN\/A<\/td>\nY<\/td>\nN\/A<\/td>\n<\/tr>\n
Intellectual Disability<\/td>\nY<\/td>\nY<\/td>\nN<\/td>\nY<\/td>\nY<\/td>\n<\/tr>\n
Verbal IQ<\/td>\nN\/A<\/td>\n20<\/td>\n90<\/td>\n47<\/td>\n60<\/td>\n<\/tr>\n
Non-Verbal IQ<\/td>\nN\/A<\/td>\n34<\/td>\n93<\/td>\n41<\/td>\n67<\/td>\n<\/tr>\n
Autism<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\n<\/tr>\n
Macrocephaly<\/td>\nN<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\n<\/tr>\n
Gastrointestinal<\/td>\nDiarrhea, GERD, Eosinophilic Esophagitis, Duodenitis<\/td>\nConstipation, Abdominal pain<\/td>\nConstipation<\/td>\nN\/A<\/td>\nChronic diarrhea<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

 <\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Feature<\/strong><\/td>\nPatient<\/strong><\/td>\n<\/tr>\n
<\/td>\n6<\/strong><\/td>\n7<\/strong><\/td>\n8<\/strong><\/td>\n9<\/strong><\/td>\n10<\/strong><\/td>\n<\/tr>\n
Sex<\/td>\nM<\/td>\nM<\/td>\nM<\/td>\nM<\/td>\nM<\/td>\n<\/tr>\n
Age (yrs)<\/td>\n4<\/td>\n5<\/td>\n13<\/td>\n5<\/td>\n16<\/td>\n<\/tr>\n
Mutation<\/td>\nNonsense<\/td>\nNonsense<\/td>\nDeletion (3bp)<\/td>\nFrameshift<\/td>\nFrameshift<\/td>\n<\/tr>\n
Inheritance<\/td>\nDe novo<\/td>\nN\/A<\/td>\nDe novo<\/td>\nN\/A<\/td>\nN\/A<\/td>\n<\/tr>\n
Developmental Delay<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\n<\/tr>\n
Intellectual Disability<\/td>\nN<\/td>\nN<\/td>\nN<\/td>\nY<\/td>\nY<\/td>\n<\/tr>\n
Verbal IQ<\/td>\n75<\/td>\n79<\/td>\n84<\/td>\n25<\/td>\n6<\/td>\n<\/tr>\n
Non-Verbal IQ<\/td>\n78<\/td>\n92<\/td>\n98<\/td>\n38<\/td>\n19<\/td>\n<\/tr>\n
Autism<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\n<\/tr>\n
Macrocephaly<\/td>\nN<\/td>\nY<\/td>\nN<\/td>\nY<\/td>\nY<\/td>\n<\/tr>\n
Gastrointestinal<\/td>\nChronic constipation and loose stool<\/td>\nConstipation, Diarrhea<\/td>\nNone<\/td>\nNone<\/td>\nNone<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

 <\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Feature<\/strong><\/td>\nPatient<\/strong><\/td>\n<\/tr>\n
<\/td>\n11<\/strong><\/td>\n12<\/strong><\/td>\n13<\/strong><\/td>\n14<\/strong><\/td>\n15<\/strong><\/td>\n<\/tr>\n
Sex<\/td>\nM<\/td>\nM<\/td>\nM<\/td>\nM<\/td>\nM<\/td>\n<\/tr>\n
Age (yrs)<\/td>\n18<\/td>\nN\/A<\/td>\n6<\/td>\n7<\/td>\n17<\/td>\n<\/tr>\n
Mutation<\/td>\nNonsense<\/td>\nMissense<\/td>\nNonsense<\/td>\nMissense<\/td>\nMissense<\/td>\n<\/tr>\n
Inheritance<\/td>\nN\/A<\/td>\nN\/A<\/td>\nDe novo<\/td>\nInherited maternal<\/td>\nInherited paternal<\/td>\n<\/tr>\n
Developmental Delay<\/td>\nN<\/td>\nN\/A<\/td>\nY<\/td>\nY<\/td>\nN\/A<\/td>\n<\/tr>\n
Intellectual Disability<\/td>\nN<\/td>\nY<\/td>\nY<\/td>\nN\/A<\/td>\nN<\/td>\n<\/tr>\n
Verbal IQ<\/td>\nN\/A<\/td>\nN\/A<\/td>\n27<\/td>\nN\/A<\/td>\n76<\/td>\n<\/tr>\n
Non-Verbal IQ<\/td>\nN\/A<\/td>\nN\/A<\/td>\n41<\/td>\nN\/A<\/td>\n95<\/td>\n<\/tr>\n
Autism<\/td>\nSchizophrenia<\/td>\nN\/A<\/td>\nY<\/td>\nY<\/td>\nY<\/td>\n<\/tr>\n
Macrocephaly<\/td>\nN\/A<\/td>\nN\/A<\/td>\nY<\/td>\nN<\/td>\nN<\/td>\n<\/tr>\n
Gastrointestinal<\/td>\nNone<\/td>\nN\/A<\/td>\nConstipation, Dyschezia<\/td>\nNone<\/td>\nDiarrhea, Constipation<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

 <\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Feature<\/strong><\/td>\nPatient<\/strong><\/td>\n<\/tr>\n
<\/td>\n16<\/strong><\/td>\n17<\/strong><\/td>\n18<\/strong><\/td>\n19<\/strong><\/td>\n<\/tr>\n
Sex<\/td>\nF<\/td>\nM<\/td>\nM<\/td>\nF<\/td>\n<\/tr>\n
Age (yrs)<\/td>\n15<\/td>\n13<\/td>\n11<\/td>\n41<\/td>\n<\/tr>\n
Mutation<\/td>\nFrameshift<\/td>\nFrameshift<\/td>\nDeletion single a.a.<\/td>\nFrameshift<\/td>\n<\/tr>\n
Inheritance<\/td>\nInherited maternal<\/td>\nDe novo<\/td>\nUnknown<\/td>\nDe novo<\/td>\n<\/tr>\n
Developmental Delay<\/td>\nY<\/td>\nN\/A<\/td>\nN<\/td>\nY<\/td>\n<\/tr>\n
Intellectual Disability<\/td>\nY<\/td>\nY<\/td>\nN<\/td>\nY<\/td>\n<\/tr>\n
Verbal IQ<\/td>\n88<\/td>\nN\/A<\/td>\n68<\/td>\nN\/A<\/td>\n<\/tr>\n
Non-Verbal IQ<\/td>\n69<\/td>\nN\/A<\/td>\n79<\/td>\nN\/A<\/td>\n<\/tr>\n
Autism<\/td>\nY<\/td>\nY<\/td>\nN<\/td>\nN<\/td>\n<\/tr>\n
Macrocephaly<\/td>\nY<\/td>\nY<\/td>\nN<\/td>\nY<\/td>\n<\/tr>\n
Gastrointestinal<\/td>\nNone<\/td>\nConstipation<\/td>\nConstipation<\/td>\nGastropathy<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n","protected":false},"excerpt":{"rendered":"

CHD8 intragenic deletion associated with autism spectrum disorder Original research article by E.S. Stolerman\u00a0et al. (2016). Read the abstract here. The work presented in this article adds to evidence that changes in the CHD8 gene can play a major role in autism. The researchers describe the clinical features observed in a 9-year-old boy with a […]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":425,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6030"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=6030"}],"version-history":[{"count":11,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6030\/revisions"}],"predecessor-version":[{"id":7855,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6030\/revisions\/7855"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/425"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6030"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}