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Medwave. 2019 May 2;19(4):e7622. doi: 10.5867/medwave.2019.04.7621.

Psychological and cognitive evaluation of autism in a patient with MOMO syndrome: a case report and literature review.

[Article in English, Spanish; Abstract available in Spanish from the publisher]

Author information

1
Hospital Carlos van Buren, Valparaíso, Chile.
2
Hospital Carlos van Buren, Valparaíso, Chile; Departamento de Pediatría, Escuela de Medicina, Universidad de Valparaíso, Viña del Mar, Chile.
3
Escuela de Medicina, Universidad de Valparaíso, Viña del Mar, Chile.
4
Escuela de Medicina, Universidad de Valparaíso, Viña del Mar, Chile; Centro Interdisciplinario de Estudios en Salud (CIESAL), Universidad de Valparaíso, Valparaíso, Chile. Email: marcelo.arancibiame@uv.cl.

Abstract

in English, Spanish

MOMO is an acronym for macrosomia, obesity, macrocephaly and ocular abnormalities. The syndrome was first described in 1993, with a total of nine patients published thus far. All the cases presented intellectual disability and in one case autism was described. We present a new case of a patient with MOMO syndrome, who consulted for hallucinatory phenomena. He completed a neuropsychological, clinical and cognitive evaluation, showing a borderline intelligence quotient and fulfilled the criteria for autism spectrum disorder. This is the first neurocognitive evaluation of a patient with MOMO, supporting the use of standardized scales in order to assess the autism and other psychiatric comorbidities in patients with genetics syndromes.

KEYWORDS:

behavioral; genetics; intellectual disability; autism spectrum disorder

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