Survey On Disclosing Information To Children With Genetic Conditions And Their Siblings In Japan

Many parents face the dilemma of when, how, and what to disclose to their children regarding their genetic conditions. The purpose of this study was to learn about the experiences of parents regarding disclosing information to their children with genetic conditions.Methods: A questionnaire was sent to 378 parents of children and adolescents with the following genetic conditions: 22q11.2 deletion syndrome, Beckwith-Wiedemann syndrome, Noonan syndrome, Russell-Silver syndrome, Kabuki syndrome, Williams syndrome, Prader-Willi syndrome, and Sotos syndrome. Findings were analyzed using descriptive statistics for multiple-choice questions and thematic analysis for open-ended questions.Results: Of the parents surveyed, 158 (41.8 %) responded to the questionnaires. The average age of children with genetic conditions was 12 years. Sixty-seven parents had disclosed relevant information to their children, whereas 91 had not. Sixty-eight out of 91 respondents were planning to disclose information in the future. Many respondents who had disclosed information did not regret this. They felt good talking about genetic conditions, and had talked about genetic conditions with the affected children following disclosure.Conclusion: This study contributed to our understanding of the attitudes of parents towards disclosing information to children with genetic conditions.

Russel — Silver syndrome a 7-month-old child: case report

Russel – Silver syndrome (RSS) is a hereditary disease manifesting with intrauterine growth retardation, dwarfism, and other stigmas of embryopathy. We describe this rare genetic condition in a 7-month-old baby. The changes in physical condition and neurological status, clinical signs, laboratory tests, and management strategy are addressed. A genetic condition was suggested through an arrested development and stigmas of embryopathy only at the age of 7 months. At the age of 5 months, hydrocephaly was suspected due to asymmetrical proportions of the body (the relatively large size of head compared to a small body). However, neurosonography ruled out this diagnosis. Genetic testing for microsatellite loci on chromosome 7, which identified abnormal methylation of H19 gene verified the final diagnosis. KEYWORDS: Russel – Silver syndrome, child, intrauterine growth retardation, pseudohydrocephalus, dwarfism, genetic counseling. FOR CITATION: Khafizova N.R., Merzlyakova D.R., Safina Yu.F. Russel – Silver syndrome a 7-month-old child: case report. Russian Journal of Woman and Child Health. 2021;4(1):103–105. DOI: 10.32364/2618-8430-2021-4-1-103-105.

A De Novo BSCL2 Gene S90L Mutation in a Progressive Tetraparesis with Urinary Dysfunction and Corpus Callosum Involvement

A Silver syndrome is a rare autosomal dominant spastic paraparesis in which spasticity of the lower limbs is accompanied by amyotrophy of the small hand muscles. The causative gene is the Berardinelli-Seip congenital lipodystrophy 2 (BSCL2), which is related to a spectrum of neurological phenotypes. In the current study, we have presented a 14-year-old male with a slowly progressive spastic paraparesis with urinary incontinence that later on exhibited atrophy and weakness in the thenar and dorsal interosseous muscles. Magnetic resonance imaging (MRI) revealed discrete atrophy of the corpus callosum isthmus and an extended next-generation sequencing panel identified a de novo heterozygous mutation in BSCL2 gene, c.269C > T p.(S90L). Various clinical expression and incomplete penetrance of BSCL2 gene mutations complicate the establishment of a genetic etiology for these cases. Therefore, Silver syndrome should be included in the differential diagnosis if the initial presentation is a spastic paraparesis by urinary involvement with childhood-onset, even with MRI atypical findings. This report is the first Iberian Silver syndrome case carrying a de novo c.269C > T p. (S90L) BSCL2 gene mutation.

MON-054 First Report of Monozygotic Twins with Russell Silver Syndrome in China: Recombinant Growth Hormone Therapy and 3-Year Observation

BACKGROUND: Russell Silver syndrome (RSS) is a rare genetic condition that includes an important index of suspicion when a child presents with hemihyperthrophy. There are more than 400 cases described in the literature, but twin pairs with RSS have rarely been reported. Up to now only six monozygotic twin pairs have been described [1]. However, this has not been reported in east Asian population yet. Clinical Case: A 4 years and 9 months old monozygotic twin girl with a history of growth retardation was admitted to our hospital. The first impression of the patient was: poor growth, specific facial features, asymmetry of the lower and upper limbs for length and width. Detailed physical examination revealed a small triangular face with prominent forehead, micrognathia, lips with downturned corners, and fifth finger clinodactyly on bothhands. On admission into our hospital, the examination measured a weight of 9.0 kg (-4.9SD) and a length of 88.4 cm (-5.2SD). Anthropometrically she was classified as second grade malnutrition according to World Health Organization (WHO) charts. By contrast, her twin sister was physically and anthropometrically normal. Intrauterine growth retardation, postnatal growth retardation, normal head circumference and asymmetry of the body were the major criteria that made the clinical diagnosis of Russell-Silver syndrome. Confirmation of Russell-Silver syndrome was made based on clinical findings, birth history and results of molecular genetic testing showed hypomethylation of the paternal imprinting center 1 (IC1) of chromosome 11p15.5. Recombinant human growth hormone (rhGH) was administered by subcutaneous injection once daily, in the evening, at a dose of 0.05 mg/ kg/day. The check-up visits in the outpatient were held every three months, and the following issues were evaluated: response to treatment, tolerability, and laboratory test results, with particular emphasis on carbohydrate metabolism and bone age progression. Currently, after 28 months of rhGH treatment, the girl has grown 18 cm, reaching a body height of 106.5 cm (-3.2SD, ΔHt SDSCA: 2SD). Her current weight is 14.1 kg (-2.9SD, ΔWt SDSCA: 2SD). So far, no serious adverse events have been observed. Conclusion: This is the first case of monozygotic twin with Russell Silver syndrome reported in east Asian population. The possibility of rhGH treatment can be considered in cases of documented GH deficiency in patients with Russell Silver syndrome, under close endocrinic supervision.