Dados do Trabalho

Título

BARDET-BIEDL SYNDROME AND AUTISM SPECTRUM DISORDER: CASE REPORT

Apresentação do caso único

Boy, eight years old, male, with complaints of progressive loss vision, which originated during his childhood. Presented
obesity, moderate to severe cognitive impairment, delayed psychomotor development with significant difficulties in social communication, socialization and motor skills. Regarding obstetric history, full-term pregnancy, normal birth and no relevant complications. Regarding family history, there is no history of consanguineous marriages in the family. On physical examination, the patient presented syndromic face, hypogonadism and polydactyly. In ophthalmological evaluation and funduscopy revealed pallor of the optic disc, reduced vascular caliber and changes in the retinal pigment epithelium in both eyes. The perimetry test was inconclusive in both eyes. The Childhood Autism Rating Scale (CARS) was used and a score of 29 was observed. This case is a report of a patient diagnosed with Bardet-Bield Syndrome and Autism and aims to emphasize the role of clinical examination and knowledge of the phenotypic characteristics of the syndrome for early diagnostic elucidation and better prognosis.

Discussão

Bardet-Biedl Syndrome (BBS) is a ciliopathy and the underlying cause of the syndrome is associated with a group of proteins essential for the structure and function of cilia, known as basal bodies or intracellular transport. It is a rare autosomal recessive multisystemic disease, characterized by clinical signs including pigmentary retinopathy, polydactyly, neurodevelopmental delay, hypogonadism and renal anomalies. Neurodevelopmental delay occurs in 81% of patients. Cognitive impairment is present in 66% of patients with BBS. Kerr et al showed that the majority of patients present difficulties in intellectual perceptual skills, auditory abilities and neurobehavioral disorders. Thus, impairments in verbal fluency are present in 22-40% of patients, attention difficulties in 69% and severe impairment in functional independence in 74% of patients. Baker et al., in a study of ten individuals reported that 90% of patients exhibited autistic traits and/or mood and anxiety disorders that significantly interfered with activities of daily living. To date, there is no specific treatment for BBS, and patient care is mainly based on supportive therapies.

Comentários finais

Bardet-Biedl Syndrome is a rare pathology whose early diagnosis is of utmost importance. Developing a better understanding of the cognitive, sensory, and psychosocial characteristics of patients with BBS is critical.

Referências

Baker K, Northam GB, Chong WK, Banks T, Beales P, Baldeweg T. Neocortical and hippocampal volume loss in a human ciliopathy: A quantitative MRI study in Bardet–Biedl syndrome. Am J Med Genet A. 2011;155:1–8.
Brinckman DD, Keppler-Noreuil KM, Blumhorst C, Biesecker LG, Sapp JC, Johnston JJ, Wiggs EA. Cognitive, sensory, and psychosocial characteristics in patients with Bardet-Biedl syndrome. Am J Med Genet A. 2013 Dec;161A(12):2964-71. doi: 10.1002/ajmg.a.36245. Epub 2013 Nov 5. PMID: 24194441; PMCID: PMC4419571.
Caba L, Florea L, Braha EE, Lupu VV, Gorduza EV. Monitoring and Management of Bardet-Biedl Syndrome: What the Multi-Disciplinary Team Can Do. J Multidiscip Healthc. 2022 Sep 27;15:2153-2167. doi: 10.2147/JMDH.S274739. PMID: 36193191; PMCID: PMC9526427.
Kerr EN, Bhan A, Heon E. Exploration of the cognitive, adaptive and behavioral functioning of patients affected with Bardet–Biedl syndrome. Clin Genet. 2016;89(4):426–433. doi:10.1111/cge.12614

Palavras Chave

Bardet-Biedl Syndrome; Autism Spectrum Disorders; Neurodevelopmental disorder