Dados do Trabalho

Título

ASSESSING PSEUDOBULBAR SIGNS AND NUTRITIONAL INFLUENCES IN BRAZILIAN CHILDREN WITH INFANTILE NEUROAXONAL DYSTROPHY: CLINICAL INSIGHTS AND IMPLICATIONS

Introdução

Infantile Neuroaxonal Dystrophy (INAD) is an ultra-rare, severe neurodegenerative disorder categorized under PLA2G6-associated neurodegeneration. This disorder manifests early in life with progressive neurological impairment, including pseudobulbar signs such as dysphagia, which is often underrecognized by physicians. These signs significantly affect feeding capabilities and overall nutrition.

Objetivo

To evaluate the nutritional status, dietary intake, and the prevalence of dysphagia in Brazilian children diagnosed with INAD, aiming to understand the impact of these factors on their quality of life and disease progression

Método

A cross-sectional study was conducted with 21 Brazilian children diagnosed with INAD. Structured questionnaires for caregivers and dietary recalls conducted by interviewers collected detailed information on the children's dietary habits and nutritional intake.

Resultados

Among the 21 participants, significant motor impairments included loss of neck control (76.2%), trunk control (81.0%), and walking ability (95.2%). Nutritional assessments revealed that 42.9% of patients were fed exclusively orally, 66.7% of whom needed texture adaptation, and 77.8% experienced choking due to dysphagia. Anthropometric data showed a trend towards a difference in the median weight-to-age Z-score between orally and enteral-fed groups (-2,1 versus -0,34, respectively, p=0.072). Orally fed patients also experienced lower intake of several micronutrients, underscoring the challenges of nutritional management in these children.

Conclusão

Dysphagia as a pseudobulbar sign in INAD significantly impacts the nutritional status of affected children and is often underrecognized. Monotonous diet and difficulties in feeding may lead to poor growth and micronutrients deficiency. Early recognition of dysphagia and tailored nutritional management are crucial for improving the quality of life in these patients. This study highlights the need for integrated care approaches and further research to develop effective management strategies for this vulnerable population.

Referências

Gregory A, Kurian MA, Maher ER, et al. PLA2G6-Associated Neurodegeneration. 2008 Jun 19 [Updated 2017 Mar 23]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1675/

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Shinzawa K, et al. Neuroaxonal dystrophy caused by group VIA phospholipase A2 deficiency in mice: a model of human neurodegenerative disease. J Neurosci. 2008;28(9):2212–20.

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WHO AnthroPlus for personal computers Manual: Software for assessing growth of the world's children and adolescents. Geneva: WHO, 2009. Disponível em: http://www.who.int/growthref/tools/en/.


Johnson RK, Driscoll P, Goran MI. Comparison of multiple-pass 24-hour recall estimates of energy intake with total energy expenditure determined by doubly labeled water method in young children. J Am Diet Assoc. 1996; 96: 1140-4.


Guenther PM, Cleveland LE, Ingwersen LA. Questionnaire design and data collection procedures. In: Tippett KS, Cypel YS, editors. Design and operation: the continuing survey of food intakes by individuals and the diet and health knowledge survey 1994-1996. Washington, DC: US Dept of Agriculture Agricultural Research Service; 1998. p. 42-63.

Palavras Chave

Neuroaxonal Dystrophy; Dysphagia; Nutritional Management