Turner sendromlu ergenlerin multidisipliner yaklaşımla psikometrik ve psikososyal açıdan değerlendirilmesi: Ön çalışma

Introduction: The aim of this study is to compare neurocognitive and psychosocial characteristics in adolescents with Turner Syndrome (TS) and age-matched adolescents with short stature (SS) and normal karyotypes. Materials and Methods: Seven patients with TS and 7 patients with SS and normal karyotypes were included in the study. Their comorbid psychopathologies, cognitive functioning, quality of life, self-esteem, emphatic tendencies, mentalizing abilities and coping strategies were investigated. Results: Although the adolescents with SS had higher levels of anxiety and conduct problems, there were no significant differences between the TS and SS groups in terms of comorbid psychopathologies, social cognition skills, quality of life, self-esteem and coping strategies. However, the cognitive functioning of adolescents with TS was found to be lower than both of the adolescents with SS and community samples. Conclusions: According to this preliminary study, anxiety/conduct problems and cognitive functioning of patients with TS should be evaluated in order to prevent subsequent negative outcomes.Giriş: Bu çalışmanın amacı, TS olan ergenler ile kısa boylu ve normal karyotipi olan benzer yaştaki ergenleri nörobilişsel ve psikososyal olarak karşılaştırmaktır. Gereç ve Yöntem: Çalışmaya TS olan yedi hasta ile kısa boylu ve normal karyotipi olan yedi hasta dahil edilmiştir. Eşlik eden psikopatolojiler, bilişsel işlevsellik, yaşam kalitesi, benlik saygısı, empatik eğilimler, zihinselleştirme becerileri ve baş etme stratejileri araştırılmıştır. Bulgular: Kısa boylu ergenlerde anksiyete ve davranım problemleri daha yüksek olmasına karşın, eşlik eden psikopatolojiler, sosyal biliş becerileri, yaşam kalitesi, benlik saygısı ve başetme stratejileri açısından TS olan ergenler ile kısa boylu ergenler arasında önemli bir fark bulunmamıştır. Bununla birlikte, TS olan ergenlerin bilişsel işlevlerinin hem kısa boylu ergenlere hem de toplum örneklemine göre daha düşük olduğu bulunmuştur. Sonuç: Bu ön çalışmaya göre, ileride gelişebilecek olumsuz sonuçları önlemek için TS’li hastalar anksiyete / davranış sorunları ve bilişsel işlevler açısından değerlendirilmelidir

A Diagnosis to Consider in An Adult Patient With Facial Features And Intellectual Disability: Williams Syndrome

Williams syndrome (OMIM #194050) is a rare, well-recognized, multisystemic genetic condition affecting approximately 1/7,500 individuals. There are no marked regional differences in the incidence of Williams syndrome. The syndrome is caused by a hemizygous deletion of approximately 28 genes, including ELN on chromosome 7q11.2. Prenatal-onset growth retardation, distinct facial appearance, cardiovascular abnormalities, and unique hypersocial behavior are among the most common clinical features. Here, we report the case of a patient referred to us with distinct facial features and intellectual disability, who was diagnosed with Williams syndrome at the age of 37 years. Our aim is to increase awareness regarding the diagnostic features and complications of this recognizable syndrome among adult health care providers. Williams syndrome is usually diagnosed during infancy or childhood, but in the absence of classical findings, such as cardiovascular anomalies, hypercalcemia, and cognitive impairment, the diagnosis could be delayed. Due to the multisystemic and progressive nature of the syndrome, accurate diagnosis is critical for appropriate care and screening for the associated morbidities that may affect the patient's health and well-being

Evaluation of a girl with 16p13.11 microduplication syndrome according to the International Classification of Functioning, Disability and Health Perspectives

Objective: To present the functional status of a child with 16p13.11 microduplication syndrome by evaluating it under the International Classification of the World Health Organization's International Framework for Functioning, Disability and Health (ICF). Case Description: An 11-year-old girl with 16p13.11 microduplication syndrome was assessed using the tools classified according to ICF for Children and Youth (ICF-CY) categories to evaluate body function, activity participation, and environmental factors.There was a wide range of problems, from body functions to activity participation and environmental factors. Besides these problems, there were social and cognitive disorders as well. Conclusion: Physical and cognitive problems in body function and activity together constitute great barriers to participation in daily life

Cathepsin K Analysis In A Pycnodysostosis Cohort: Demographic, Genotypic And Phenotypic Features

Background To characterize cathepsin K (CTSK) mutations in a group of patients with pycnodysostosis, who presented with either short stature or atypical fractures to pediatric endocrinology or dysmorphic features to pediatric genetics clinics. Methods Seven exons and exon/intron boundaries of CTSK gene for the children and their families were amplified with PCR and sequenced. Sixteen patients from 14 families with pycnodysostosis, presenting with typical dysmorphic features, short stature, frequent fractures and osteosclerosis, were included in the study. Results We identified five missense mutations (M1I, I249T, L7P, D80Y and D169N), one nonsense mutation (R312X) and one 301 bp insertion in intron 7, which is revealed as Alu sequence; among them, only L7P and I249 were described previously. The mutations were homozygous in all cases, and the families mostly originated from the region where consanguineous marriage rate is the highest. Patients with M1I mutation had fractures, at younger ages than the other pycnodysostosis cases in our cohort which were most probably related to the severity of mutation, since M1I initiates the translation, and mutation might lead to the complete absence of the protein. The typical finding of pycnodysostosis, acroosteolysis, could not be detected in two patients, although other patients carrying the same mutations had acroosteolysis. Additionally, none of the previously described hot spot mutations were seen in our cohort; indeed, L7P and R312X were the most frequently detected mutations. Conclusions We described a large cohort of pycnodysostosis patients with genetic and phenotypic features, and, first Alu sequence insertion in pycnodysostosis.PubMedWoSScopu