Rett-like Syndrome in a Pediatric Patient—A Challenging Diagnosis

Neurodevelopmental disorders with features overlapping Rett's syndrome frequently remain unexplained in patients without disease-causing variants in MECP2. Variants in IQSEC2 frequently cause nonsyndromic X-linked intellectual disability (XLID), although de novo variants may cause a severe syndrome that resembles Rett and Angelman's syndrome. We report a 7-year-old girl presenting severe neurodevelopmental delay, stereotypic hand movements, hypotonia, autistic-like features, inappropriate laughing/screaming spells, and symmetrical hypomyelination. A whole exome sequencing detected a novel de novo heterozygous truncating variant within the IQSEC2 gene. Variants of IQSEC2 should be considered in patients with Rett–Angelman phenotype spectrum and autistic features when those causes were excluded.

MUSIC THERAPY IN RETT SYNDROME CASES

Rett syndrome is a rare (0,01%) genetic disorder affecting girls' development. Individuals with Rett syndrome experience a full range of health problems that severely influence and complicate their mobility, intellect, communication, learning, and entire lifestyle. The treatment of Rett's syndrome is still aimed at investigating new pathways to ensure the best possible patient’s development and quality of life. The distinctive feature of Rett syndrome is the two main sensations with little damage: hearing and vision. Therefore, music therapy plays an exceptional role in the treatment and special education of children with Rett syndrome. The goal of this study is to find the most effective music therapy techniques and their specific indications whilst working with individuals with Rett syndrome. Research method used: music therapists’ online survey conducted internationally. The research suggests that the most effective methods in Rett syndrome cases are structured musical games that promote targeted hands-on movements, as well as listening to the songs and choice of favourite songs using pictures or other symbols. Music therapy can be applied for various health needs of individuals with Rett syndrome, especially to enhance hand functions as well as to improve non-verbal communication and to help individuals experience togetherness and joy.

MUSIC THERAPY IN RETT SYNDROME CASES

Rett syndrome is a rare (0,01%) genetic disorder affecting girls' development. Individuals with Rett syndrome experience a full range of health problems that severely influence and complicate their mobility, intellect, communication, learning, and entire lifestyle. The treatment of Rett's syndrome is still aimed at investigating new pathways to ensure the best possible patient’s development and quality of life. The distinctive feature of Rett syndrome is the two main sensations with little damage: hearing and vision. Therefore, music therapy plays an exceptional role in the treatment and special education of children with Rett syndrome. The goal of this study is to find the most effective music therapy techniques and their specific indications whilst working with individuals with Rett syndrome. Research method used: music therapists’ online survey conducted internationally. The research suggests that the most effective methods in Rett syndrome cases are structured musical games that promote targeted hands-on movements, as well as listening to the songs and choice of favourite songs using pictures or other symbols. Music therapy can be applied for various health needs of individuals with Rett syndrome, especially to enhance hand functions as well as to improve non-verbal communication and to help individuals experience togetherness and joy.

Comparing the results of DAADD and ABC of children included in Autism Spectrum Disorders

PURPOSE: To verify if there are characteristic behaviors of the different diagnosis included in the autism spectrum according to the Differential Assessment of Autism and Other Developmental Disorders (DAADD) and to the Autism Behavior Checklist (ABC). METHOD: Participants were 45 individuals and their respective speech-language therapists. All therapists are graduate students working with the children for at least 1 year. This time was considered sufficient to the therapists to have the information required by the DAADD questionnaire. It is comprised by 3 protocols specifically designed to children with 2 to 4 years, 4 to 6 years and 6 to 8 years, the same criteria used to separate the research groups, G1, G2 and G3, respectively. Data referring to the ABC were retrieved from the subject's files at the Laboratório de Investigação Fonoaudiológica nos Distúrbios do Espectro do Autismo (Research Laboratory on Language Disorders in the Autism Spectrum) of the School of Medicine, Universidade de São Paulo, where it is routinely applied during the annual assessment. RESULTS: Answers to the different areas of DAADD are similar to the different areas of ABC. These data show data the diagnosis by DAADD is easier in older children. Although there is no significant difference, the large occurrence of Rett's syndrome diagnosis according to the DAADD was associated to higher risk for autism according to the ABC in G1. With increasing age this tendency decreases and either in G2 and G3 Autism is the most frequent diagnosis. CONCLUSION: Although the results of both questionnaires tend to agree more with increasing age, the DAADD is more sensitive in the different ages while the ABC if more specific only to older children.