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Neuropsychological Findings in Hamamy Syndrome: A Clinical Case Report

Published online by Cambridge University Press:  07 February 2019

Cynthia Roukoz ,
Rama Kanj ,
Fadi T. Maalouf  and
Pia Zeinoun
Cynthia Roukoz
Affiliation:
American University of Beirut, Department of Psychiatry, Beirut, Lebanon University of Angers, Department of Psychology, Angers, France
Rama Kanj
Affiliation:
American University of Beirut, Department of Education, Beirut, Lebanon
Fadi T. Maalouf
Affiliation:
American University of Beirut, Department of Psychiatry, Beirut, Lebanon
Pia Zeinoun*
Affiliation:
American University of Beirut, Department of Psychiatry, Beirut, Lebanon American University of Beirut, Department of Psychology, Beirut, Lebanon
*
Correspondence and reprint requests to: Pia Zeinoun, American University of Beirut, Department of Psychology, Jesup Hall,Room 106, Riad El Solh, Beirut, Lebanon, 1107-2020. E-mail: pz05@aub.edu.lb
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Abstract

This study, reports for the first time, the neuropsychological profile of a child with Hamamy syndrome—a rare genetic disorder with only five published cases (Buget, Canbolat, Akgul, & Kucukay, 2015). The patient was seen for a neuropsychological evaluation at ages 6 and 7, at the American University of Beirut Medical Center. Procedures included an extended clinical interview with the parent, behavioral observations, formal tests, and a series of parental rating scales. Patient was found to have relatively spared nonverbal intelligence, borderline-impaired language, and clinically impaired verbal reasoning, attention, and motor coordination. Additionally, he showed clinically significant concerns with behavioral regulation, metacognition, attention-deficit, and hyperactivity/impulsivity. The patient was diagnosed with a DSM-V Language Disorder, Speech Sound Disorder, and Attention Deficit/Hyperactivity Disorder, combined presentation, in the context of low-average intelligence. At follow-up, the neuropsychological profile was consistent, albeit improvement was noted following pharmacotherapy. This is the first published report that describes the neuropsychological functions of Hamamy syndrome. We make recommendations for early identification of cognitive strengths and weaknesses, and interventions to address them. Future research should evaluate additional functions such as memory and social/emotional development. (JINS, 2019, 25, 336–342)

Keywords

Hamamy syndromeNeuropsychological profileRare genetic disorder
Type
Case Report
Information
Journal of the International Neuropsychological Society , Volume 25 , Issue 3 , March 2019 , pp. 336 - 342
Copyright
Copyright © The International Neuropsychological Society 2019 

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References

Bonnard, C., Strobl, A.C., Shboul, M., Lee, H., Merriman, B., Nelson, S.F., ... Reversade, B. (2012). Mutations in IRX5 impair craniofacial development and germ cell migration via SDF1. Nature Genetics, 44(6), 709. doi:10.1038/ng.2259 Google Scholar
Buget, M.I., Canbolat, N., Akgul, T., & Kucukay, S. (2015). Anaesthesia and orphan disease: Anaesthetic management of a child with Hamamy syndrome. European Journal of Anaesthesiology, 32(12), 891–893. doi:10.1097/EJA.0000000000000263 Google Scholar
Catts, H.W., Fey, M.E., Tomblin, J.B., & Zhang, X. (2002). A longitudinal investigation of reading outcomes in children with language impairments. Journal of Speech, Language, and Hearing Research, 45(6), 1142–1157. doi:10.1044/1092-4388(2002/093) Google Scholar
Guler, C., & Keskin, G. (2013). Dental findings in Hamamy syndrome. Genetic Counseling, 25(4), 383–387.Google Scholar
Hamamy, H.A., Teebi, A.S., Oudjhane, K., Shegem, N.N., & Ajlouni, K.M. (2007). Severe hypertelorism, midface prominence, prominent/simple ears, severe myopia, borderline intelligence, and bone fragility in two brothers: New syndrome? American Journal of Medical Genetics Part A, 143(3), 229–234. doi:10.1002/ajmg.a.31594 Google Scholar
Hariz, N., Bawab, S., Atwi, M., Tavitian, L., Zeinoun, P., Khani, M., ... Maalouf, F.T. (2013). Reliability and validity of the Arabic Screen for Child Anxiety Related Emotional Disorders (SCARED) in a clinical sample. Psychiatry Research, 209(2), 222–228. doi:10.1016/j.psychres.2012.12.002.Google Scholar
Hutchings, J., Gardner, F., Bywater, T., Daley, D., Whitaker, C., Jones, K., Eames, C., & Edwards, R.T. (2007). Parenting intervention in Sure Start services for children at risk of developing conduct disorder: Pragmatic randomized controlled trial. British Medical Journal, 334(7595), 678. doi:10.1136/bmj.39126.620799.55 Google Scholar
Jones, K., Daley, D., Hutchings, J., Bywater, T., & Eames, C. (2007). Efficacy of the Incredible Years Basic parent training program as an early intervention for children with conduct problems and ADHD. Child: Care, Health and Development, 33(6), 749–756. doi:10.1111/j.1365-2214.2007.00747.x Google Scholar
Pitcher, T.M., Piek, J.P., & Hay, D.A. (2003). Fine and gross motor ability in males with ADHD. Developmental Medicine and Child Neurology, 45(8), 525–535. doi:10.1111/j.1469-8749.2003.tb00952.x Google Scholar
Tavitian, L., Atwi, M., Bawab, S., Hariz, N., Zeinoun, P., Khani, M., & Maalouf, F. (2014). The Arabic mood and feelings questionnaire: psychometrics and validity in a clinical sample. Child Psychiatry & Human Development, 45(3), 361–368. doi:10.1007/s10578-013-0406-6 Google Scholar