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

被引：0

作者：

Passalacqua, Cristobal ^{[1
]}

Garcia, Matias ^{[1
]}

Sepulveda, Elisa ^{[1
,2
]}

Toledo, Diego ^{[1
]}

Valencia, Matias ^{[3
]}

Arancibia, Marcelo ^{[3
,4
]}

机构：

[1] Hosp Carlos van Buren, Valparaiso, Chile

[2] Univ Valparaiso, Escuela Med, Dept Pediat, Vina Del Mar, Chile

[3] Univ Valparaiso, Escuela Med, Vina Del Mar, Chile

[4] Univ Valparaiso, Ctr Interdisciplinario Estudios Salud CIESAL, Valparaiso, Chile

来源：

MEDWAVE | 2019年 / 19卷 / 04期

关键词：

autism spectrum disorder; genetics; behavioral; intellectual disability; OBESITY; DELINEATION; MACROSOMIA; PREVALENCE; CHILDHOOD; CHILDREN;

D O I：

10.5867/medwave.2019.03.7621

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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 syndrome, supporting the use of standardized scales in order to assess the autism and other psychiatric comorbidities in patients with genetics syndromes.

引用

页数：4

共 25 条

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[Anonymous], CASE REP GENET

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