Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature.
Pathogenic variants in the IRF2BPL gene are associated with neurodevelopmental disorders with varying degrees of regression, loss of speech and epilepsy. The phenotype is also known as Neurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures (NEDAMSS). The motor...
| Publicado en: | European Child & Adolescent Psychiatry Vol. 34; no. 3; pp. 835 - 853 |
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| Autores principales: | , , |
| Formato: | case study research systematic review tables/charts Journal Article |
| Publicado: |
Springer Nature
Mar2025
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| Acceso en línea: | Ver este registro en EBSCOhost |
| fields | @attributes: recordID: 1 pdfLink: plink: https://search.ebscohost.com/login.aspx?direct=true&db=ccm&AN=183750989&site=ehost-live header: @attributes: shortDbName: ccm uiTerm: 183750989 longDbName: CINAHL Complete uiTag: AN controlInfo: bkinfo: dissinfo: jinfo: jid: 10188827 EJ3 jtl: European Child & Adolescent Psychiatry issn: 10188827 maglogo: N pubinfo: dt: Mar2025 vid: 34 iid: 3 pid: 237 pub: Springer Nature place: New York, New York artinfo: ui: 183750989 183750989 183750989 10.1007/s00787-024-02522-7 183750989 ppf: 835 ppct: 18 formats: fmt: – @attributes: type: T – @attributes: type: P tig: atl: Expanding the phenotype of NEDAMSS with a psychiatric perspective: analysis of a new case, and a systematic review of the literature. aug: au: Kristiansen, Kimmie Vernal, Ditte Lammers Hulgaard, Ditte Roth affil: Mental Health Services in the Region of Southern Denmark, Child- and Adolescent Psychiatry, Esbjerg, Denmark sug: subj: Phenotype Catatonia Mental Disorders Dyskinesias Speech Disorders Seizures Health Knowledge Human Systematic Review Descriptive Statistics Data Analysis Software PubMed Male Adolescence Magnetic Resonance Imaging Adolescent: 13-18 years Male ab: Pathogenic variants in the IRF2BPL gene are associated with neurodevelopmental disorders with varying degrees of regression, loss of speech and epilepsy. The phenotype is also known as Neurodevelopmental Disorder with regression, Abnormal Movements, loss of Speech, and Seizures (NEDAMSS). The motor symptoms of this disorder share significant phenotypical characteristics with catatonia, a severe neuropsychiatric psychomotor syndrome. The objective of this article is to expand the knowledge on the presentation of NEDAMSS with a focus on psychiatric symptoms including catatonia. A systematic review of 32 case presentations of NEDAMSS, and a novel case report of a patient with NEDAMSS, exhibiting multiple psychiatric symptoms, including catatonia are presented. Psychiatric symptoms and disorders including affective disorders, psychotic symptoms, catatonia, and developmental disorders are reported in one third of the reviewed cases. Reported effects of pharmacological treatment on motor symptoms of NEDAMSS are very limited. Our case presents improvement in motor symptoms originally attributed to NEDAMSS, after treatment with Lorazepam following diagnosis with catatonia. Patients with NEDAMSS may present with both neurological and psychiatric symptoms. The clinical presentation of NEDAMSS motor symptoms and catatonia have similarities and thus poses significant challenges to the diagnostic process, with risk of incorrect or delayed treatment. The limited experience and the complex phenotype of NEDAMSS complicates pharmacological treatment and encourages caution, especially with the use of antipsychotic drugs in the presence of possible catatonic symptoms. pubtype: Academic Journal doctype: case study research systematic review tables/charts Journal Article ougenre: Article language: English refInfo: holdings: @attributes: islocal: N |
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