Age-related differences in prevalence of autism spectrum disorder symptoms in children and adolescents with Costello syndrome

被引:10
作者
Schwartz, David D. [1 ]
Katzenstein, Jennifer M. [2 ]
Highley, Eric J. [3 ]
Stabley, Deborah L. [4 ]
Sol-Church, Katia [4 ]
Gripp, Karen W. [5 ]
Axelrad, Marni E. [1 ]
机构
[1] Texas Childrens Hosp, Baylor Coll Med, Dept Pediat, Psychol Sect, Houston, TX 77030 USA
[2] All Childrens Hosp, Johns Hopkins Med, Dept Psychol, St Petersburg, FL USA
[3] Pediat Neurobehav Grp, Indianapolis, IN USA
[4] Alfred I DuPont Hosp Children, Biomed Res, Wilmington, DE USA
[5] Alfred I DuPont Hosp Children, Med Genet, Wilmington, DE USA
基金
美国国家卫生研究院;
关键词
autism spectrum disorder; Costello syndrome; genetics; SOCIAL COMMUNICATION QUESTIONNAIRE; MODIFIED CHECKLIST; PHENOTYPE; TODDLERS; MUTATION; FEATURES; PROTEIN;
D O I
10.1002/ajmg.a.38174
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:1294 / 1300
页数:7
相关论文
共 42 条
[11]   Longitudinal Course of Cognitive, Adaptive, and Behavioral Characteristics in Costello Syndrome [J].
Axelrad, Marni E. ;
Schwartz, David D. ;
Fehlis, Julie E. ;
Hopkins, Elizabeth ;
Stabley, Deborah L. ;
Sol-Church, Katia ;
Gripp, Karen W. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2009, 149A (12) :2666-2672
[12]   Adaptive skills, cognitive, and behavioral characteristics of Costello syndrome [J].
Axelrad, ME ;
Glidden, R ;
Nicholson, L ;
Gripp, KW .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 128A (04) :396-400
[13]   Autism screening questionnaire: diagnostic validity [J].
Berument, SK ;
Rutter, M ;
Lord, C ;
Pickles, A ;
Bailey, A .
BRITISH JOURNAL OF PSYCHIATRY, 1999, 175 :444-451
[14]   Etiological heterogeneity in autism spectrum disorders: More than 100 genetic and genomic disorders and still counting [J].
Betancur, Catalina .
BRAIN RESEARCH, 2011, 1380 :42-77
[15]  
Carter MJ, 2014, THER RECREAT J, V48, P275
[16]   Validation of the social communication questionnaire in a population cohort of children with autism spectrum disorders [J].
Chandler, Susie ;
Charman, Tony ;
Baird, Gillian ;
Simonoff, Emily ;
Loucas, Tom ;
Meldrum, David ;
Scott, Mimi ;
Pickles, Andrew .
JOURNAL OF THE AMERICAN ACADEMY OF CHILD AND ADOLESCENT PSYCHIATRY, 2007, 46 (10) :1324-1332
[17]   Efficacy of three screening instruments in the identification of autistic-spectrum disorders [J].
Charman, Tony ;
Baird, Gillian ;
Simonoff, Emily ;
Loucas, Tom ;
Chandler, Susie ;
Meldrum, David ;
Pickles, Andrew .
BRITISH JOURNAL OF PSYCHIATRY, 2007, 191 :554-559
[18]   Large-Scale Use of the Modified Checklist for Autism in Low-Risk Toddlers [J].
Chlebowski, Colby ;
Robins, Diana L. ;
Barton, Marianne L. ;
Fein, Deborah .
PEDIATRICS, 2013, 131 (04) :E1121-E1127
[19]   Narrowing the Critical Deletion Region for Autism Spectrum Disorders on 16p11.2 [J].
Crepel, An ;
Steyaert, Jean ;
De la Marche, Wouter ;
De Wolf, Veerle ;
Fryns, Jean-Pierre ;
Noens, Ilse ;
Devriendt, Koen ;
Peeters, Hilde .
AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2011, 156B (02) :243-245
[20]   Orthopedic Manifestations and Implications for Individual With Costello Syndrome [J].
Detweiler, Stacey ;
Thacker, Mihir M. ;
Hopkins, Elizabeth ;
Conway, Laura ;
Gripp, Karen W. .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2013, 161 (08) :1940-1949