Intellectual development in Apert's syndrome: a long term follow up of 29 patients.

Patton, Michael A.; Goodship, Judith A.; Hayward, Richard; Lansdown, Richard

doi:10.1136/jmg.25.3.164

Cited by 83 publications

(50 citation statements)

References 3 publications

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“…One possible explanation for these discrepant findings is the higher percentage of children who have Apert syndrome (23%) included in the study of Da Costa compared with our study (8%), because Apert syndrome has been found to be associated with lower FSIQs. 8,20 Flapper and colleagues reported FSIQs of more than 1 SD below the normative mean in 32% of their patients who have Crouzon/Pfeiffer (n = 16). However, that study used a highly selected sample of patients referred to the hospital.…”

Section: Discussionmentioning

confidence: 99%

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Intellectual, Behavioral, and Emotional Functioning in Children With Syndromic Craniosynostosis

Maliepaard

Mathijssen²,

Oosterlaan

et al. 2014

Pediatrics

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WHAT'S KNOWN ON THIS SUBJECT: Children who have syndromic craniosynostosis are at risk for developing intellectual disability, behavioral and emotional problems. Study results were often based on small samples and wide age-based variation, using nonvalidated instruments and describing no clear inclusion and exclusion criteria.WHAT THIS STUDY ADDS: Intellectual, behavioral, and emotional functioning is described in a national sample (N = 82) of schoolaged children with syndromic craniosynostosis. Using standardized instruments, this study indicates higher risks for intellectual disability and behavioral problems mainly in children having Apert and Muenke syndromes. abstract OBJECTIVES: To examine intellectual, behavioral, and emotional functioning of children who have syndromic craniosynostosis and to explore differences between diagnostic subgroups. METHODS:A national sample of children who have syndromic craniosynostosis participated in this study. Intellectual, behavioral, and emotional outcomes were assessed by using standardized measures: Wechsler Intelligence Scale for Children, Third Edition, Child Behavior Checklist (CBCL)/6-18, Disruptive Behavior Disorder rating scale (DBD), and the National Institute of Mental Health Diagnostic Interview Schedule for Children. RESULTS:We included 82 children (39 boys) aged 6 to 13 years who have syndromic craniosynostosis. Mean Full-Scale IQ (FSIQ) was in the normal range (M = 96.6; SD = 21.6). However, children who have syndromic craniosynostosis had a 1.9 times higher risk for developing intellectual disability (FSIQ ,85) compared with the normative population (P ,.001) and had more behavioral and emotional problems compared with the normative population, including higher scores on the CBCL/6-18, DBD Total Problems (P , .001), Internalizing (P , .01), social problems (P , .001), attention problems (P , .001), and the DBD Inattention (P , .001).Children who have Apert syndrome had lower FSIQs (M = 76.7; SD = 13.3) and children who have Muenke syndrome had more social problems (P , .01), attention problems (P , .05), and inattention problems (P , .01) than normative population and with other diagnostic subgroups. CONCLUSIONS: Although children who have syndromic craniosynostosishave FSIQs similar to the normative population, they are at increased risk for developing intellectual disability, internalizing, social, and attention problems. Higher levels of behavioral and emotional problems were related to lower levels of intellectual functioning. Pediatrics 2014;133:e1608-e1615 AUTHORS:

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Section: Discussionmentioning

confidence: 99%

“…[7][8][9] Table 2 provides details on these studies. Overall, these pioneering studies reported divergent outcomes on intellectual functioning of children who have well-known syndromes.…”

mentioning

confidence: 99%

Intellectual, Behavioral, and Emotional Functioning in Children With Syndromic Craniosynostosis

Maliepaard

Mathijssen²,

Oosterlaan

et al. 2014

Pediatrics

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“…In previous studies, Patton et al 10 , Léfèvre et al 11 , it was observed among 70 patients, with no sex prevalence, being 50% of men and 50% of women, respectively. After these studies it can be concluded that most of the patients with Apert's syndrome is mental faulty in different levels.…”

Section: Discussionmentioning

confidence: 99%

Neuropsychological and phonological evaluation in the Apert's syndrome: study of two cases

Ciasca

Araújo

Simão

et al. 2001

Arq. Neuro-Psiquiatr.

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-This study evaluated two cases of Apert's syndrome, through phonological, cognitive, and neuropsychological instruments and correlated the results to complementary exams. In short, this study reveals the necessity of application of neuropsychological, cognitive and phonological evaluation and correlation of the results with complementary testings because significant differences can be present in the Apert's syndrome.

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“…Its morbidity is significant, since approximately half of affected individuals have some degree of mental retardation with IQs ranging from less than 35 to the normal range (Renier et al, 1996;Patton et al, 1988;Sarimski, 1997). Prenatal diagnosis of Apert syndrome in sporadic cases is challenging because the characteristic sonographic features of craniosynostosis may not present until the third-trimester (Filkins et al, 1997).…”

Section: Discussionmentioning

confidence: 99%

Diagnosis of Apert syndrome in the second‐trimester using 2D and 3D ultrasound

et al. 2007

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Objectives To illustrate how Apert syndrome, a rare autosomal dominant genetic syndrome, can be detected in the second-trimester of pregnancy using 2D ultrasound, and how 3D ultrasound examination may provide parents with a better understanding of the structural defects affecting their baby. Methods Fetal Medicine Unit database searches to identify Apert syndrome cases.Results Five cases of Apert syndrome were suspected in the second-trimester when sonography showed abnormal extremities including syndactyly, and an abnormal skull shape. In 1 case there was increased nuchal translucency with a normal fetal karyotype in the first-trimester. In all cases, a mutation of the FGFR2 gene confirmed the diagnosis of Apert syndrome. 3D ultrasound was used to show parents the extent of the abnormalities of the skull, face and extremities. Parents were counseled by craniofacial surgeons and geneticists.Conclusion Apert syndrome can be accurately suspected in the second-trimester by careful ultrasound examination of the fetus including the extremities and skull shape. 3D ultrasound can be a useful adjunct to 2D examination for parental counseling.

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Intellectual development in Apert's syndrome: a long term follow up of 29 patients.

Abstract: SUMMARY Twenty-nine patients with Apert's syndrome were ascertained through hospital records.

Cited by 83 publications

References 3 publications

Intellectual, Behavioral, and Emotional Functioning in Children With Syndromic Craniosynostosis

Intellectual, Behavioral, and Emotional Functioning in Children With Syndromic Craniosynostosis

Neuropsychological and phonological evaluation in the Apert's syndrome: study of two cases

Diagnosis of Apert syndrome in the second‐trimester using 2D and 3D ultrasound

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