Emotional Problems of the Child with Mental Retardation and His Family

HOFSTATTER, LEOPOLD; HOFSTATTER, LILLI

doi:10.1097/00007611-196905000-00019

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“…There are various environmental factors in utero that are linked to offspring obesity and mental disability, including maternal alcoholism, smoking and nutritional status (which can cause fetal undernutrition and overnutrition), infections and inflammation, environmental chemicals, maternal stress, and gut microbiota, and paternal factors; such as smoking and obesity, which result in epigenetic changes in sperm cells [ 31 - 34 ]. Affective deprivation, lack of resources and no adequate methods during the first months of life could also influence the development of intellectual disability in newborns, manifested with or without obesity [ 35 , 36 ].…”

Section: Introductionmentioning

confidence: 99%

Reviewed and updated Algorithm for Genetic Characterization of Syndromic Obesity Phenotypes

Rodríguez‐López

Gimeno-Ferrer

Santos

et al. 2022

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Background: Individuals with a phenotype of early-onset severe obesity associated with intellectual disability can have molecular diagnoses ranging from monogenic to complex genetic traits. Severe overweight is the major sign of a syndromic physical appearance and predicting the influence of a single gene and/or polygenic risk profile is extremely complicated among the majority of the cases. At present, considering rare monogenic bases as the principal etiology for the majority of obesity cases associated with intellectual disability is scientifically poor. The diversity of the molecular bases responsible for the two entities makes the appliance of the current routinely powerful genomics diagnostic tools essential. Objective: Clinical investigation of these difficult-to-diagnose patients requires pediatricians and neurologists to use optimized descriptions of signs and symptoms to improve genotype correlations. Methods: The use of modern integrated bioinformatics strategies which are conducted by experienced multidisciplinary clinical teams. Evaluation of the phenotype of the patient’s family is also of importance. Results: The next step involves discarding the monogenic canonical obesity syndromes and considering infrequent unique molecular cases, and/or then polygenic bases. Adequate management of the application of the new technique and its diagnostic phases is essential for achieving good cost/efficiency balances. Conclusion: With the current clinical management, it is necessary to consider the potential coincidence of risk mutations for obesity in patients with genetic alterations that induce intellectual disability. In this review, we describe an updated algorithm for the molecular characterization and diagnosis of patients with a syndromic obesity phenotype.

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Section: Introductionmentioning

confidence: 99%