Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report

1p36 deletion syndrome represents the most common terminal deletion observed in humans. Major clinical findings comprise developmental delay/intellectual disability, poor or absent expressive language, congenital central muscular hypotonia, brain anomalies, brachydactyly/camptodactyly, short feet, a...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autor principal: Wolfgang Briegel
Formato: article
Lenguaje:EN
Publicado: MDPI AG 2021
Materias:
R
Acceso en línea:https://doaj.org/article/809d31dd2c4d41b6959c35a932164c90
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:809d31dd2c4d41b6959c35a932164c90
record_format dspace
spelling oai:doaj.org-article:809d31dd2c4d41b6959c35a932164c902021-11-25T17:50:46ZPsychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report10.3390/ijerph1822120641660-46011661-7827https://doaj.org/article/809d31dd2c4d41b6959c35a932164c902021-11-01T00:00:00Zhttps://www.mdpi.com/1660-4601/18/22/12064https://doaj.org/toc/1661-7827https://doaj.org/toc/1660-46011p36 deletion syndrome represents the most common terminal deletion observed in humans. Major clinical findings comprise developmental delay/intellectual disability, poor or absent expressive language, congenital central muscular hypotonia, brain anomalies, brachydactyly/camptodactyly, short feet, and characteristic facial features like straight eyebrows, deep-set eyes, and midface hypoplasia. So far, there is very limited knowledge about comorbid psychiatric disorders and their effective treatment in this special population. To fill this gap, this case report presents an initially four-year-old girl with 1p36.33–1p36.32 deletion, moderate intellectual disability, insomnia, oppositional-defiant disorder and attention deficit/hyperactivity disorder covering a period of time of about 1.5 years comprising initial psychological/psychiatric assessment, subsequent day clinic/outpatient treatment (amongst others including off-label use of melatonin and methylphenidate as well as parent-child interaction therapy) and follow-up assessment. Follow-up results indicated good efficacy of melatonin and methylphenidate medication without any adverse effects. Multidisciplinarity in diagnosis and treatment are mandatory to meet needs of patients with complex genetic disorders like 1p36 deletion syndrome. Off-label use of melatonin (for insomnia) and methylphenidate (for attention deficit/hyperactivity disorder) should be considered in young children with 1p36 deletion syndrome if behavioral interventions are not sufficient.Wolfgang BriegelMDPI AGarticle1p36 deletion syndromeoppositional-defiant disorderattention deficit/hyperactivity disorderparent-child interaction therapy (PCIT)melatoninmethylphenidateMedicineRENInternational Journal of Environmental Research and Public Health, Vol 18, Iss 12064, p 12064 (2021)
institution DOAJ
collection DOAJ
language EN
topic 1p36 deletion syndrome
oppositional-defiant disorder
attention deficit/hyperactivity disorder
parent-child interaction therapy (PCIT)
melatonin
methylphenidate
Medicine
R
spellingShingle 1p36 deletion syndrome
oppositional-defiant disorder
attention deficit/hyperactivity disorder
parent-child interaction therapy (PCIT)
melatonin
methylphenidate
Medicine
R
Wolfgang Briegel
Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report
description 1p36 deletion syndrome represents the most common terminal deletion observed in humans. Major clinical findings comprise developmental delay/intellectual disability, poor or absent expressive language, congenital central muscular hypotonia, brain anomalies, brachydactyly/camptodactyly, short feet, and characteristic facial features like straight eyebrows, deep-set eyes, and midface hypoplasia. So far, there is very limited knowledge about comorbid psychiatric disorders and their effective treatment in this special population. To fill this gap, this case report presents an initially four-year-old girl with 1p36.33–1p36.32 deletion, moderate intellectual disability, insomnia, oppositional-defiant disorder and attention deficit/hyperactivity disorder covering a period of time of about 1.5 years comprising initial psychological/psychiatric assessment, subsequent day clinic/outpatient treatment (amongst others including off-label use of melatonin and methylphenidate as well as parent-child interaction therapy) and follow-up assessment. Follow-up results indicated good efficacy of melatonin and methylphenidate medication without any adverse effects. Multidisciplinarity in diagnosis and treatment are mandatory to meet needs of patients with complex genetic disorders like 1p36 deletion syndrome. Off-label use of melatonin (for insomnia) and methylphenidate (for attention deficit/hyperactivity disorder) should be considered in young children with 1p36 deletion syndrome if behavioral interventions are not sufficient.
format article
author Wolfgang Briegel
author_facet Wolfgang Briegel
author_sort Wolfgang Briegel
title Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report
title_short Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report
title_full Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report
title_fullStr Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report
title_full_unstemmed Psychiatric Comorbidities in 1p36 Deletion Syndrome and Their Treatment—A Case Report
title_sort psychiatric comorbidities in 1p36 deletion syndrome and their treatment—a case report
publisher MDPI AG
publishDate 2021
url https://doaj.org/article/809d31dd2c4d41b6959c35a932164c90
work_keys_str_mv AT wolfgangbriegel psychiatriccomorbiditiesin1p36deletionsyndromeandtheirtreatmentacasereport
_version_ 1718411930892238848