An examination of language and nonverbal abilities in twins with Apert syndrome
-
Panayiota Stavroussi
,
Filippos Vlachos
Abstract
Background: Apert syndrome is a rare genetic syndrome that is usually associated with intellectual disability. There is still limited knowledge about the syndrome’s cognitive-linguistic characteristics.
Methods: The aim of this study was to evaluate the language and nonverbal abilities of two children (twins) with Apert syndrome aged 8.6 years, and to examine whether their scores on the language and nonverbal measurements fall within the average range. The Λ-α-Τ-ω, a psychometric instrument that measures language competence, the Wechsler Nonverbal Scale of Ability and the Raven’s Colored Progressive Matrices were used for assessment purposes.
Results: According to the results, both children failed to give correct responses on the subtests measuring the phonological aspect of language. Moreover, the performances of both children on the nonverbal abilities measures tended to be below average.
Conclusions: The need for additional studies to identify the cognitive-linguistic strengths and weaknesses related to the specific syndrome is underlined. Research-based knowledge on the behavioral phenotype and the phenotypic, in general, characteristics of this syndrome could lead to better intervention planning.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
References
1. Cohen MM. Craniosynostoses: phenotypic/molecular correlations. Am J Med Genet 1995;56:334–9.10.1002/ajmg.1320560327Search in Google Scholar PubMed
2. Arduino-Meirelles AP, Lacerda CB, Gil-da-Silva-Lopes VL. Developmental aspects of oral language in craniosynostosis. Pro Fono 2006;18:213–20.10.1590/S0104-56872006000200011Search in Google Scholar
3. Agochukwu NB, Solomon BD, Muenke M. Impact of genetics on the diagnosis and clinical management of syndromic craniosynostoses. Childs Nerv Syst 2012;28:1447–63.10.1007/s00381-012-1756-2Search in Google Scholar PubMed PubMed Central
4. Cohen MM, Kreiborg S. Upper and lower airway compromise in the Apert syndrome. Am J Med Genet 1992;44:90–3.10.1002/ajmg.1320440121Search in Google Scholar PubMed
5. Rajenderkumar D, Bamiou DE, Sirimanna T. Audiological profile in Apert syndrome. Arch Dis Child 2005;90:592–3.10.1136/adc.2004.067298Search in Google Scholar PubMed PubMed Central
6. Patton MA, Goodship J, Hayward R, Lansdown R. Intellectual development in Apert’s syndrome: a long-term follow up of 29 patients. J Med Genet 1988;25:164–7.10.1136/jmg.25.3.164Search in Google Scholar PubMed PubMed Central
7. Da Costa AC, Savarirayan R, Wrennall JA, Walters I, Gardiner N, Tucker, A, et al. Neuropsychological diversity in Apert syndrome: a comparison of cognitive profiles. Ann Plast Surg 2005;54:450–5.10.1097/01.sap.0000149387.95212.dfSearch in Google Scholar PubMed
8. Da Costa AC, Walters I, Savarirayan R, Anderson VA, Wrennall JA, Meara JG. Intellectual outcomes in children and adolescents with syndromic and nonsyndromic craniosynostosis. Plast Reconstr Surg 2006;118:175–81.10.1097/01.prs.0000221009.93022.50Search in Google Scholar PubMed
9. Renier D, Arnaud E, Cinalli G, Sebag G, Zerah M, Marchac D. Prognosis for mental function in Apert’s syndrome. J Neurosurg 1996;85:66–72.10.3171/jns.1996.85.1.0066Search in Google Scholar PubMed
10. Yacubian-Fernandes A, Palhares A, Giglio A, Gabarra RC, Zanini S, Portela L, et al. Apert syndrome: factors involved in the cognitive development. Arq Neuropsiquiatr 2005;63:963–8.10.1590/S0004-282X2005000600011Search in Google Scholar PubMed
11. Shipster C, Hearst D, Dockrell JE, Kilby E, Hayward R. Speech and language skills and cognitive functioning in children with Apert syndrome: a pilot study. Int J Lang Commun Disord 2002;37:325–43.10.1080/13682820210138816Search in Google Scholar
12. Cohen MM, Kreiborg S. The central nervous system in the Apert syndrome. Am J Med Genet 1990;35:36–45.10.1002/ajmg.1320350108Search in Google Scholar
13. Lefebvre A, Travis F, Arndt EM, Munro IR. A psychiatric profile before and after reconstructive surgery in children with Apert’s syndrome. Br J Plast Surg 1986;39:510–3.10.1016/0007-1226(86)90122-0Search in Google Scholar
14. Elfenbein JL, Waziri M, Morris HL. Verbal communication skills of six children with craniofacial anomalies. Cleft Palate J 1981;18:59–64.Search in Google Scholar
15. Ciasca SM, Araujo AP, Simão AN, Capellini SA, Chiaratti PS, Camargo EE, et al. Neuropsychological and phonological evaluation in the Apert’s syndrome: study of two cases. Arq Neuropsiquiatr 2001;59:342–6.10.1590/S0004-282X2001000300006Search in Google Scholar
16. Tzouriadou M, Syngollitou E, Anagnostopoulou E, Vakola I. Λ-α-Τ-ω, Psychometric test of language competence. Manual. Athens, Greece: Hellenic Ministry of Education, 2008.Search in Google Scholar
17. Wechsler D, Naglieri JA. Wechsler nonverbal scale of ability (WNV). San Antonio, TX: Pearson, 2006.10.1037/t15176-000Search in Google Scholar
18. Raven J, Court J, Raven J. Coloured progresive matrices. Raven manual. Oxford: Psychologists Press, 1995.Search in Google Scholar
19. Hodapp RM, Dykens EM. Genetic disorders of intellectual disability: expanding our concepts of phenotypes and of family outcomes. J Genet Couns 2012;21:761–9.10.1007/s10897-012-9536-4Search in Google Scholar
20. Horsler K, Oliver C. Environmental influences on the behavioral phenotype of Angelman syndrome. Am J Ment Retard 2006;111:311–21.10.1352/0895-8017(2006)111[311:EIOTBP]2.0.CO;2Search in Google Scholar
21. Hodapp RM. Direct and indirect behavioral effects of different genetic disorders of mental retardation. Am J Ment Retard 1997;102:67–79.10.1352/0895-8017(1997)102<0067:DAIBEO>2.0.CO;2Search in Google Scholar
22. Sarimski K. Children with Apert syndrome: behavioural problems and family stress. Dev Med Child Neurol 1998;40:44–9.10.1111/j.1469-8749.1998.tb15355.xSearch in Google Scholar
23. McCarthy JG, Warren SM, Bernstein J, Burnett W, Cunningham ML, Edmond JC, et al. Parameters of care for craniosynostosis. Cleft Palate Craniofac J 2012;49:1S–24S.10.1597/11-138Search in Google Scholar
©2016 by De Gruyter
Articles in the same Issue
- Frontmatter
- Editorial
- An introduction to the International Classification of Functioning, Disability and Health (ICF)
- Original Articles
- An introduction to the International Classification of Functioning, Disability and Health (ICF)
- Spectral analysis of heart rate variability
- Brief functional analysis of repetitive verbal behavior (vocal stereotypy) for an adult with acquired brain injury
- Impact of school participation on quality of life of Brazilian children with cerebral palsy
- A survey of disabled persons about their physical activity
- Effect of PNF technique for knee muscles on lower limb performance in subacute stroke – an experimental study
- Korean early childhood educators’ self-reported versus observed strategies for addressing challenging behaviors: an exploratory study
- Adaptation: Vineland Adaptive Behavior Scale for 3–9 year-old Indian children
- Assessment of selected behavior aspects of 10 male persons with profound intellectual disability in regard to atmospheric conditions during a three-month-long observation
- An examination of language and nonverbal abilities in twins with Apert syndrome
- Hypothalamus-pituitary-adrenal-axis associations with self- vs. parental ratings of depression in boys with an autism spectrum disorder
- Managing stress in schools: teachers coping with special education children
- Lexical decision task for taxonomic and thematic categorization in typically developing Kannada-English-speaking bilingual children
- Using curriculum-based measurement data to monitor the effectiveness of the Wilson Reading System for students with disabilities: an exploratory study
- Evaluation of a leadership and intrapersonal development subject for university students in Hong Kong: findings based on 2 years
- Technology to support positive occupational engagement and communication in persons with multiple disabilities
- Case Reports
- Sonographic diagnosis of simultaneous bilateral quadriceps tendon rupture
- Ketamine and the core symptoms of autism
Articles in the same Issue
- Frontmatter
- Editorial
- An introduction to the International Classification of Functioning, Disability and Health (ICF)
- Original Articles
- An introduction to the International Classification of Functioning, Disability and Health (ICF)
- Spectral analysis of heart rate variability
- Brief functional analysis of repetitive verbal behavior (vocal stereotypy) for an adult with acquired brain injury
- Impact of school participation on quality of life of Brazilian children with cerebral palsy
- A survey of disabled persons about their physical activity
- Effect of PNF technique for knee muscles on lower limb performance in subacute stroke – an experimental study
- Korean early childhood educators’ self-reported versus observed strategies for addressing challenging behaviors: an exploratory study
- Adaptation: Vineland Adaptive Behavior Scale for 3–9 year-old Indian children
- Assessment of selected behavior aspects of 10 male persons with profound intellectual disability in regard to atmospheric conditions during a three-month-long observation
- An examination of language and nonverbal abilities in twins with Apert syndrome
- Hypothalamus-pituitary-adrenal-axis associations with self- vs. parental ratings of depression in boys with an autism spectrum disorder
- Managing stress in schools: teachers coping with special education children
- Lexical decision task for taxonomic and thematic categorization in typically developing Kannada-English-speaking bilingual children
- Using curriculum-based measurement data to monitor the effectiveness of the Wilson Reading System for students with disabilities: an exploratory study
- Evaluation of a leadership and intrapersonal development subject for university students in Hong Kong: findings based on 2 years
- Technology to support positive occupational engagement and communication in persons with multiple disabilities
- Case Reports
- Sonographic diagnosis of simultaneous bilateral quadriceps tendon rupture
- Ketamine and the core symptoms of autism
