PMID- 28374929
OWN - NLM
STAT- MEDLINE
DCOM- 20170508
LR  - 20200930
IS  - 1552-4833 (Electronic)
IS  - 1552-4825 (Print)
IS  - 1552-4825 (Linking)
VI  - 173
IP  - 5
DP  - 2017 May
TI  - Age-related differences in prevalence of autism spectrum disorder symptoms in 
      children and adolescents with Costello syndrome.
PG  - 1294-1300
LID - 10.1002/ajmg.a.38174 [doi]
AB  - Dysregulation of the mitogen activated protein kinase (MAPK) pathway in Costello 
      syndrome (CS) may contribute to increased risk for autism-spectrum disorder 
      (ASD). We examined prevalence of ASD symptoms in 14 individuals (six females) age 
      1-18 years with molecularly confirmed CS. Caregivers completed the Modified 
      Checklist for Autism in Toddlers (M-CHAT) for ages 0-4 years (n = 7), and the 
      Social Communication Questionnaire (SCQ) for ages 4 and older (n = 7). Age was 
      associated with meeting ASD criteria: 5/7 (71.4%) younger children met the ASD 
      cut-off on the MCHAT, compared to 0/7 older children on the SCQ. The following 
      medical and developmental factors were strongly associated with ASD criteria on 
      the M-CHAT: having a gastrostomy tube at time of assessment, not eating solid 
      food, not walking, and not being toilet trained. Two children who met stricter 
      ASD criteria had significantly lower adaptive functioning and were physically 
      much more impaired. Among older participants, SCQ subscale scores in 
      communication, socialization, and repetitive behavior domains were comparable to 
      the typically-developing normative sample. ASD symptoms were highly elevated in 
      younger CS individuals. Older children did not differ from typically developing 
      samples in prevalence of ASD symptoms. CS individuals may appear to fall on the 
      autism spectrum in early childhood due to severe feeding and orthopedic problems 
      that improve by age four, suggesting many of these children may eventually emerge 
      out of an ASD presentation.
CI  - (c) 2017 Wiley Periodicals, Inc.
FAU - Schwartz, David D
AU  - Schwartz DD
AD  - Section of Psychology, Department of Pediatrics, Baylor College of Medicine, 
      Texas Children's Hospital, Houston, Texas.
FAU - Katzenstein, Jennifer M
AU  - Katzenstein JM
AD  - Department of Psychology, Johns Hopkins Medicine, All Children's Hospital, St. 
      Petersburg, Florida.
FAU - Highley, Eric J
AU  - Highley EJ
AD  - Pediatric Neurobehavioral Group, Indianapolis, Indiana.
FAU - Stabley, Deborah L
AU  - Stabley DL
AD  - Biomedical Research, A. I. DuPont Hospital for Children, Wilmington, Delaware.
FAU - Sol-Church, Katia
AU  - Sol-Church K
AD  - Biomedical Research, A. I. DuPont Hospital for Children, Wilmington, Delaware.
FAU - Gripp, Karen W
AU  - Gripp KW
AD  - Medical Genetics, A. I. DuPont Hospital for Children, Wilmington, Delaware.
FAU - Axelrad, Marni E
AU  - Axelrad ME
AUID- ORCID: 0000-0002-8865-971X
AD  - Section of Psychology, Department of Pediatrics, Baylor College of Medicine, 
      Texas Children's Hospital, Houston, Texas.
LA  - eng
GR  - P20 GM103446/GM/NIGMS NIH HHS/United States
GR  - P30 GM114736/GM/NIGMS NIH HHS/United States
PT  - Journal Article
DEP - 20170404
PL  - United States
TA  - Am J Med Genet A
JT  - American journal of medical genetics. Part A
JID - 101235741
SB  - IM
MH  - Adolescent
MH  - Age Factors
MH  - Autism Spectrum Disorder/*epidemiology/genetics/*physiopathology
MH  - Child
MH  - Child, Preschool
MH  - Costello Syndrome/*epidemiology/genetics/*physiopathology
MH  - Female
MH  - Humans
MH  - Infant
MH  - Infant, Newborn
MH  - Male
MH  - Social Behavior
MH  - Surveys and Questionnaires
PMC - PMC5397350
MID - NIHMS848513
OTO - NOTNLM
OT  - Costello syndrome
OT  - autism spectrum disorder
OT  - genetics
EDAT- 2017/04/05 06:00
MHDA- 2017/05/10 06:00
PMCR- 2018/05/01
CRDT- 2017/04/05 06:00
PHST- 2016/02/04 00:00 [received]
PHST- 2017/01/12 00:00 [revised]
PHST- 2017/01/18 00:00 [accepted]
PHST- 2017/04/05 06:00 [pubmed]
PHST- 2017/05/10 06:00 [medline]
PHST- 2017/04/05 06:00 [entrez]
PHST- 2018/05/01 00:00 [pmc-release]
AID - 10.1002/ajmg.a.38174 [doi]
PST - ppublish
SO  - Am J Med Genet A. 2017 May;173(5):1294-1300. doi: 10.1002/ajmg.a.38174. Epub 2017 
      Apr 4.