Voices from Children Themselves: Preliminary Results of a Qualitative Study of Aggressive Behaviours within the School Context

Abstract The disruptive, provocative and intentionally aggressive behaviours of children are one of the most challenging issues that teachers and schools face today This empirical study was undertaken in the Cretian context and was qualitative in nature. Dialogical counselling and dynamic assessment interviews were the methods employed. The study aimed to understand how a sample of 11 school aged children (6-12 years old), diagnosed with conduct disorders, experience their teachers', parents', and classmates' attitudes. In line with contemporary inclusive education research, and based on the social model of disability, the authors attempted to go beyond the aggressive symptoms and through the interviews give voice to these children in order to explore their social and emotional needs and difficulties. A series of interviews with parents and classroom teachers was also organised around each pupil in order to collect more information on the child's social-academic trajectory and behaviour, the family dynamics, and the school's coping strategies. Though extended and more rigorous research is needed, the findings of this study clearly suggest that there is a family history of traumatic experiences or highly dysfunctional relational patterns in all the children's cases. Additionally, this study speculates that traditional educational practices fail to properly understand and respond to these children's social and emotional needs and difficulties, and therefore seriously risk jeopardizing their interpersonal and school trajectory

Congenital adrenal hyperplasia caused by compound heterozygosity of two novel CYP11B1 gene variants

Background Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder caused by pathogenic variants in seven genes involved in the cortisol and aldosterone biosynthetic pathway. The second most common cause, 11 beta-hydroxylase deficiency (11 beta OHD), is attributed to pathogenic variants in the CYP11B1 gene encoding for the enzyme 11 beta-hydroxylase (11 beta OH). Case presentation A 13-year-old girl was referred to the pediatric endocrinologist due to a syncopal episode. She is the third child of non-consanguineous parents. She presented with premature adrenarche at the age of 6 years and menarche at the age of 12 years. On physical examination, her height was 154.5 cm and weight 50 kg, while she presented with acne, hirsutism, clitoromegaly, and normal blood pressure. Laboratory investigation revealed increased androgen levels and poor cortisol response to the ACTH stimulation test. From the family history, the mother was diagnosed with CAH at the age of 10 years and was under treatment with methylprednisolone. Previous molecular investigation of the CYP21A2 gene was negative. Due to the increased androstenedione levels in the index patient, the suspicion of 11 beta OH was raised, and she was investigated for 11-deoxycortisol, 11-deoxycorticosterone, and CYP11B1 gene pathogenic variants. The patient and her mother were found to be compound heterozygous for two novel variants of the CYP11B1 gene. Conclusion We present a case of CAH due to compound heterozygosity of two novel pathogenic variants of the CYP11B1 gene, emphasizing the importance of molecular investigation in order to confirm clinical diagnosis and allow proper genetic counseling of the family

Obesity and attenuated adiposity rebound in children with congenital hypothyroidism. Normalization of BMI values in adolescents

An earlier adiposity rebound, suggestive of adult obesity, has been reported in children with congenital hypothyroidism. We undertook this study to evaluate the effect of congenital hypothyroidism on: 1) the timing of adiposity rebound, 2) the long-term prognosis of BMI status, and 3) the factors potentially affecting adiposity in subjects with congenital hypothyroidism. We found that in children with congenital hypothyroidism the BMI values were higher during the first years of life compared to normal population, but subsequently normalized. After the initial rise of BMI, the decline (nadir) and subsequent rise (adiposity rebound), usually occurring in normal children at an age greater than 30 months, was less evident in our group of children with congenital hypothyroidism. The severity of hypothyroidism affected BMI values at 6 and 12, but not at 36 months of age. In conclusion, in children with congenital hypothyroidism, 1) the high BMI values in early childhood normalize in adolescence, and 2) the normally expected BMI fluctuations during the first years of life are attenuated. These findings constitute indirect evidence that thyroid function during fetal and neonatal life affects BMI status during the first years of life