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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 392-398 |
| Number of pages | 7 |
| Journal | Journal of Developmental and Behavioral Pediatrics |
| Volume | 25 |
| Issue number | 6 |
| DOIs | |
| State | Published - Dec 2004 |
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Keywords
- Autism
- Fragile X syndrome
- Premutation
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health
- Behavioral Neuroscience
- Psychology(all)
- Developmental and Educational Psychology
Cite this
Autistic Spectrum Disorder and the fragile X premutation. / Goodlin-Jones, Beth L.; Tassone, Flora; Gane, Louise W.; Hagerman, Randi J.
In: Journal of Developmental and Behavioral Pediatrics, Vol. 25, No. 6, 12.2004, p. 392-398.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Autistic Spectrum Disorder and the fragile X premutation
AU - Goodlin-Jones, Beth L.
AU - Tassone, Flora
AU - Gane, Louise W.
AU - Hagerman, Randi J
PY - 2004/12
Y1 - 2004/12
N2 - 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.
AB - 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.
KW - Autism
KW - Fragile X syndrome
KW - Premutation
UR - http://www.scopus.com/inward/record.url?scp=12744260103&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=12744260103&partnerID=8YFLogxK
U2 - 10.1097/00004703-200412000-00002
DO - 10.1097/00004703-200412000-00002
M3 - Article
C2 - 15613987
AN - SCOPUS:12744260103
VL - 25
SP - 392
EP - 398
JO - Journal of Developmental and Behavioral Pediatrics
JF - Journal of Developmental and Behavioral Pediatrics
SN - 0196-206X
IS - 6
ER -