Rett Syndrome in a Peruvian Patient: A Case Report / Síndrome De Rett Em Um Paciente Peruano: Um Relato De Caso

Meireles, Pedro; Soares, Mateus Borges; Lacerda, Diego Rodrigues Naves Barbosa; Gomes, Bruno Belmonte Martineli; Carvalho, Eduardo Elias Vieira de; Salge, Ana Karina Marques; Abdalla, George Kemil; Abdalla, Douglas Reis

doi:10.34117/bjdv6n8-722

Cited by 3 publications

(3 citation statements)

References 8 publications

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“…This has resulted in a survival rate of at least 6 decades. 12 All RTT patients experience extrapyramidal motor dysfunction, which includes stereotypical hand movements and gait abnormalities. Stereotypical hand gestures include opposing hands, kneading and rubbing of the fingers, washing and clapping hands, and wringing, twisting, and rolling pills.…”

Section: Introductionmentioning

confidence: 99%

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The use of botulinum toxin for grinding in patients with Rett syndrome—Case report

Komisarek,

Malak,

Śledzińska

et al. 2023

Special Care in Dentistry

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AimsRett syndrome (RTT) is a neurodevelopmental disorder caused by a mutation in the methyl‐CpG‐binding protein 2 (MECP2) gene. It is characterized by profound and severe motor disability. Patients with RTT grind their teeth, causing damage to their permanent teeth. This article aims to describe the case of an 8‐year‐old child with RTT and the methods of botulinum toxin‐based treatment for teeth grinding.Methods and ResultsSurface electromyography (sEMG) was used to monitor the effects of treatment. The masseter and temporal muscles, responsible for the elevation of the mandible, were injected with botulinum toxin. The results of the sEMG examination performed 1 week, 1 month and 4 months after toxin administration were compared to the sEMG conducted before treatment. The research demonstrates a significant reduction in both grinding frequency and tension of the masseter and temporal muscles.ConclusionPossible adverse effects after chronic use of botulinum toxin were discussed. The article also emphasizes the need for masticatory muscle rehabilitation during botulinum toxin therapy. However, it is necessary to repeat this procedure on a larger group of children with RTT to establish our efforts' efficacy.

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Section: Introductionmentioning

confidence: 99%

“…A palliative care plan can improve functional, sensory, and motor skills. This has resulted in a survival rate of at least 6 decades 12 . All RTT patients experience extrapyramidal motor dysfunction, which includes stereotypical hand movements and gait abnormalities.…”

Section: Introductionmentioning

confidence: 99%

The use of botulinum toxin for grinding in patients with Rett syndrome—Case report

Komisarek,

Malak,

Śledzińska

et al. 2023

Special Care in Dentistry

View full text Add to dashboard Cite

show abstract

“…However a palliative treatment strategy can alleviate functional, sensory and motor skills. This has led to a survival rate of at least six decades [8].…”

Section: Introductionmentioning

confidence: 99%

Oral Manifestations of Rett Syndrome—A Systematic Review

Mahdi

Jafri

Allana

et al. 2021

IJERPH

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Rett Syndrome is an x linked developmental disorder which becomes apparent in females after 6 to 18 months of age. It leads to severe impairments including loss of speech, loss of hand movements/manual dexterity, characteristic hand movements such as hang wringing and intellectual disability/learning problems. This systematic review was carried out to identify the dental manifestation of Rett syndrome and to shed light on treatment options available for oral health problems associated with Rett syndrome. A systematic literature search was conducted on the PubMed, Scopus, Biomed, Web of Science, Embase, Google Scholars, Cochrane and CINAHL using the following entries: Rett syndrome (n = 3790), Oral health and Rett syndrome (n = 17), dental health of Rett syndrome patients (n = 13), and the MeSH terms listed below: Rett syndrome and Oral Health (n = 17), Rett syndrome and dentistry (n = 29). The final review included 22 search articles. The most common oral findings was bruxism. Masseteric hypertrophy was also reported. Anterior open bite and non-physiological tooth wear was observed. Other oral manifestations of Rett syndrome included mouth breathing, tongue thrusting, digit/thumb sucking, high arch palate. Increased awareness and dental education amongst dentists and assistants regarding the dental manifestations of Rett syndrome and similar neurodevelopmental disorders is required to improve the level of care and empathy they can provide to these differently able patients. Research on dental aspects of Rett is scarce and this remains a neglected topic.

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Spectrum of Mutations and Clinical Manifestations of Rett Syndrome in Girls from Western Ukraine

Kitsera

Osadchuk

Dushar

et al. 2022

Biomed. Pharmacol. J.

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Rett syndrome is one of the most common causes of mental retardation in girls. The aim of our work was to study a spectrum of genetic heterogeneity and various clinical manifestations of Rett syndrome in girls Western Ukraine. Materials and methods: there were used clinical, molecular and genetic methods. We observed seven girls with Rett syndrome aged from 6 months to 15 years who were diagnosed and followed-up at the Institute of Hereditary Pathology, National Academy of Medical Sciences of Ukraine, Lviv for three years (2019–2021) and underwent molecular genetic analyses confirmed by next-generation sequencing. Results: In this study, patients with Rett syndrome had individual clinical heterogeneity and age variability due to different mutations. Mental retardation was not observed among siblings in families with Rett syndrome. We identified seven different pathogenic mutations among seven girls, including two deletions and one duplication of the MECP2 gene. Microcephaly was observed in two girls with MECP2 c.880C>T (p.Arg294*) and MECP2 Gain (Entire coding sequence) at birth. The following developmental disabilities were found in five girls: lack of independent sitting, lack of independent gait (regression of development). Among musculoskeletal disorders, there were diagnosed scoliosis, X-shaped deformation of the lower extremities and muscular hypotonia. A two-year-old girl with Rett syndrome, along with other clinical symptoms, had breathing problems - hyperventilation (rapid shallow breathing). Conclusions: in cases with unknown cause of delayed developmental disability and mental retardation the patients should be referred for medical genetic counselling.

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Rett Syndrome in a Peruvian Patient: A Case Report / Síndrome De Rett Em Um Paciente Peruano: Um Relato De Caso

Cited by 3 publications

References 8 publications

The use of botulinum toxin for grinding in patients with Rett syndrome—Case report

The use of botulinum toxin for grinding in patients with Rett syndrome—Case report

Oral Manifestations of Rett Syndrome—A Systematic Review

Spectrum of Mutations and Clinical Manifestations of Rett Syndrome in Girls from Western Ukraine

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