Autistic Spectrum Disorder and the fragile X premutation
Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals i...
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| Veröffentlicht in: | Journal of developmental and behavioral pediatrics 2004-12, Vol.25 (6), p.392-398 |
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| container_end_page | 398 |
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| container_issue | 6 |
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| container_title | Journal of developmental and behavioral pediatrics |
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| creator | GOODLIN-JONES, Beth L TASSONE, Flora GANE, Louise W HAGERMAN, Randi J |
| description | Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD. |
| doi_str_mv | 10.1097/00004703-200412000-00002 |
| format | Article |
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It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.</description><identifier>ISSN: 0196-206X</identifier><identifier>EISSN: 1536-7312</identifier><identifier>DOI: 10.1097/00004703-200412000-00002</identifier><identifier>PMID: 15613987</identifier><language>eng</language><publisher>Hagerstown, MD: Lippincott Williams & Wilkins</publisher><subject>Adult ; Autistic Disorder - diagnosis ; Autistic Disorder - etiology ; Biological and medical sciences ; Child ; Child clinical studies ; Child, Preschool ; Developmental disorders ; DNA Mutational Analysis ; DNA, Complementary - genetics ; Female ; Fragile X Mental Retardation Protein ; Fragile X Syndrome - blood ; Fragile X Syndrome - complications ; Fragile X Syndrome - genetics ; Humans ; Infantile autism ; Intellectual Disability - diagnosis ; Intellectual Disability - etiology ; Male ; Mass Screening ; Medical sciences ; Nerve Tissue Proteins - blood ; Nerve Tissue Proteins - genetics ; Point Mutation - genetics ; Psychology. 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It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.</description><subject>Adult</subject><subject>Autistic Disorder - diagnosis</subject><subject>Autistic Disorder - etiology</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child clinical studies</subject><subject>Child, Preschool</subject><subject>Developmental disorders</subject><subject>DNA Mutational Analysis</subject><subject>DNA, Complementary - genetics</subject><subject>Female</subject><subject>Fragile X Mental Retardation Protein</subject><subject>Fragile X Syndrome - blood</subject><subject>Fragile X Syndrome - complications</subject><subject>Fragile X Syndrome - genetics</subject><subject>Humans</subject><subject>Infantile autism</subject><subject>Intellectual Disability - diagnosis</subject><subject>Intellectual Disability - etiology</subject><subject>Male</subject><subject>Mass Screening</subject><subject>Medical sciences</subject><subject>Nerve Tissue Proteins - blood</subject><subject>Nerve Tissue Proteins - genetics</subject><subject>Point Mutation - genetics</subject><subject>Psychology. Psychoanalysis. Psychiatry</subject><subject>Psychopathology. 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Psychoanalysis. Psychiatry</topic><topic>Psychopathology. Psychiatry</topic><topic>Reverse Transcriptase Polymerase Chain Reaction</topic><topic>RNA-Binding Proteins - blood</topic><topic>RNA-Binding Proteins - genetics</topic><topic>Surveys and Questionnaires</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>GOODLIN-JONES, Beth L</creatorcontrib><creatorcontrib>TASSONE, Flora</creatorcontrib><creatorcontrib>GANE, Louise W</creatorcontrib><creatorcontrib>HAGERMAN, Randi J</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of developmental and behavioral pediatrics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>GOODLIN-JONES, Beth L</au><au>TASSONE, Flora</au><au>GANE, Louise W</au><au>HAGERMAN, Randi J</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Autistic Spectrum Disorder and the fragile X premutation</atitle><jtitle>Journal of developmental and behavioral pediatrics</jtitle><addtitle>J Dev Behav Pediatr</addtitle><date>2004-12-01</date><risdate>2004</risdate><volume>25</volume><issue>6</issue><spage>392</spage><epage>398</epage><pages>392-398</pages><issn>0196-206X</issn><eissn>1536-7312</eissn><abstract>Fragile X syndrome (FXS) is the most common inherited cause of mental retardation. It is also one of the most common identifiable causes of Autism Spectrum Disorder (ASD). Carriers of FXS are often considered to be cognitively and behaviorally unaffected. However, we report here on six individuals in the premutation range who also have ASD. A comparison is made with five subjects in the premutation range who did not receive a diagnosis of ASD. The six individuals with ASD had a range of cognitive ability levels from no impairment to moderate retardation. Discussion includes the impact of molecular variables including lowered FMR1 protein and elevated FMR1 mRNA in addition to environmental factors leading to the complex neurodevelopmental disorder of ASD.</abstract><cop>Hagerstown, MD</cop><pub>Lippincott Williams & Wilkins</pub><pmid>15613987</pmid><doi>10.1097/00004703-200412000-00002</doi><tpages>7</tpages></addata></record> |
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| ispartof | Journal of developmental and behavioral pediatrics, 2004-12, Vol.25 (6), p.392-398 |
| issn | 0196-206X 1536-7312 |
| language | eng |
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| source | MEDLINE; Journals@Ovid Complete |
| subjects | Adult Autistic Disorder - diagnosis Autistic Disorder - etiology Biological and medical sciences Child Child clinical studies Child, Preschool Developmental disorders DNA Mutational Analysis DNA, Complementary - genetics Female Fragile X Mental Retardation Protein Fragile X Syndrome - blood Fragile X Syndrome - complications Fragile X Syndrome - genetics Humans Infantile autism Intellectual Disability - diagnosis Intellectual Disability - etiology Male Mass Screening Medical sciences Nerve Tissue Proteins - blood Nerve Tissue Proteins - genetics Point Mutation - genetics Psychology. Psychoanalysis. Psychiatry Psychopathology. Psychiatry Reverse Transcriptase Polymerase Chain Reaction RNA-Binding Proteins - blood RNA-Binding Proteins - genetics Surveys and Questionnaires |
| title | Autistic Spectrum Disorder and the fragile X premutation |
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