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Neurodevelopmental Profile of a Child With X-linked MSL3 Syndrome.

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Titel: Neurodevelopmental Profile of a Child With X-linked MSL3 Syndrome.
Autoren: Capawana MR; Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Braaten EB; Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Armstrong-Javors AE; Pediatric Neurology Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts., Colvin MMK; Department of Psychiatry, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts.
Quelle: Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology [Cogn Behav Neurol] 2025 Dec 01; Vol. 38 (4), pp. 207-215. Date of Electronic Publication: 2025 Dec 01.
Publikationsart: Journal Article; Case Reports
Sprache: English
Info zur Zeitschrift: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101167278 Publication Model: Electronic Cited Medium: Internet ISSN: 1543-3641 (Electronic) Linking ISSN: 15433633 NLM ISO Abbreviation: Cogn Behav Neurol Subsets: MEDLINE
Imprint Name(s): Original Publication: Hagerstown, MD : Lippincott Williams & Wilkins c2003-
MeSH-Schlagworte: Developmental Disabilities*/genetics , Developmental Disabilities*/physiopathology , Neurodevelopmental Disorders*/genetics, Humans ; Female ; Child ; Neuropsychological Tests
Abstract: Genetic variants in MSL3 lead to Basilicata-Akhtar syndrome, typically characterized by developmental delay and other multisystem symptoms. Here we report on the neurodevelopmental profile of a 12-year-old female who was diagnosed and followed over a period of years by a multidisciplinary team of clinicians in medical genetics, neurology, neuropsychology, and other specialties. The patient underwent a battery of standardized tests to comprehensively assess her functioning at various ages. She had global developmental delay, pervasive motor weaknesses, and specific concomitant medical issues, but her overall clinical presentation was less severe than that of other individuals with MSL3 syndrome. Since she did not exhibit substantial global impairment, we will discuss the nuances of her neurocognitive profile, including uneven strengths (eg, expressive language, comprehension, problem-solving) and limitations (eg, motor, attention, social, processing speed, learning). We will differentiate between the medical, psychiatric, and neurocognitive functions of a child with this rare condition over time by evaluating her development across several domains. We will also draw comparisons to other individuals with MSL3 syndrome, as well as those with more common conditions. This case report adds to the existing knowledge of MSL3 syndrome, illustrates the importance of serial and detailed assessments, and may assist in treatment planning and management for other individuals with this condition.
(Copyright © 2025 Wolters Kluwer Health, Inc. All rights reserved.)
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Contributed Indexing: Keywords: Basilicata-Akhtar; X-linked MSL3 syndrome; developmental delay; genetic condition; neuropsychology
Entry Date(s): Date Created: 20251106 Date Completed: 20251204 Latest Revision: 20251204
Update Code: 20251204
DOI: 10.1097/WNN.0000000000000411
PMID: 41194650
Datenbank: MEDLINE
Beschreibung
Abstract:Genetic variants in MSL3 lead to Basilicata-Akhtar syndrome, typically characterized by developmental delay and other multisystem symptoms. Here we report on the neurodevelopmental profile of a 12-year-old female who was diagnosed and followed over a period of years by a multidisciplinary team of clinicians in medical genetics, neurology, neuropsychology, and other specialties. The patient underwent a battery of standardized tests to comprehensively assess her functioning at various ages. She had global developmental delay, pervasive motor weaknesses, and specific concomitant medical issues, but her overall clinical presentation was less severe than that of other individuals with MSL3 syndrome. Since she did not exhibit substantial global impairment, we will discuss the nuances of her neurocognitive profile, including uneven strengths (eg, expressive language, comprehension, problem-solving) and limitations (eg, motor, attention, social, processing speed, learning). We will differentiate between the medical, psychiatric, and neurocognitive functions of a child with this rare condition over time by evaluating her development across several domains. We will also draw comparisons to other individuals with MSL3 syndrome, as well as those with more common conditions. This case report adds to the existing knowledge of MSL3 syndrome, illustrates the importance of serial and detailed assessments, and may assist in treatment planning and management for other individuals with this condition.<br /> (Copyright © 2025 Wolters Kluwer Health, Inc. All rights reserved.)
ISSN:1543-3641
DOI:10.1097/WNN.0000000000000411