Evaluation of the clinical characteristics of children with autism spectrum disorder and epilepsy and the perception of their parents on quality of life.

BACKGROUND AND AIM: Autism spectrum disorder (ASD) is among the serious clinical pictures of early childhood, and its main symptoms are qualitative dysfunction in social interactions with impairment of verbal and nonverbal communication and limitations in interests and activities. METHODS: This study aimed to examine the clinical conditions that mediate this comorbidity, compare parental quality of life in isolated ASD and ASD with epilepsy, demonstrate the relationships between clinical and EEG findings obtained in diagnostic evaluation, and examine the results in light of the literature. RESULTS: The study sample consisted of 154 ASD patients; 26 were girls (16.9 %) and 128 (83.1 %) were boys. Of the patients with epilepsy, seizures were focal in 14 patients (9.1 %), generalized in 9 patients (5.8 %), and unspecified in 1 patient (0.6 %). Intellectual ability was found to be a significant predictor of epilepsy diagnosis. Mean (SD) total scores in the Quality of Life in Autism Questionnaire were 131.84 (10.68) among mothers of children with ASD-epilepsy and 148.33 (14.03) among mothers of children with ASD alone (P < .001). CONCLUSION: Many psychiatric and medical conditions can co-occur with ASD. Determining the prognostic criteria for ASD is of great importance in coordinating lifelong autism rehabilitation. Improving autism-specific symptoms will benefit children with ASD as well as help mitigate parental anxiety.

Hematopoietic Stem Cell Transplant for Primary Immunodeficiency Diseases: A Single-Center Experience.

OBJECTIVES: The only curative treatment for many patients with primary immunodeficiency disease is hematopoietic stem cell transplant. In this study, we report the transplant outcomes of patients with primary immunodeficiency diseases. MATERIALS AND METHODS: Herein, we present the transplant outcomes of 20 patients with primary immunodeficiency disease seen at our center in Kayseri, Turkey, from 2010 to 2015. RESULTS: The disease distribution of the 20 patients were as follows: 6 patients with severe combined immunodeficiency, 4 patients with hemophagocytic lymphohistiocytosis, 2 patients with chronic granulomatous disease, 2 patients with type 2 Griscelli syndrome, 2 patients with B-cell deficiency plus bone marrow failure, 1 patient with severe congenital neutropenia, 1 patient with X-linked lymphoproliferative disease, 1 patient with T-cell deficiency plus relapsed non-Hodgkin lymphoma, and 1 patient with type 1 leukocyte adhesion deficiency. Of the 20 patients, 11 received related HLA-matched, 6 received haploidentical, 2 received unrelated HLA-matched, and 1 received HLA-mismatched transplant. The median age at transplant was 21 months, and median follow-up was 5 months. Overall survival rate was 65%. Mean engraftment times for neutrophils and platelets were 14.25 ± 3.08 and 24.7 ± 11.4 days. Graft-versus-host disease was observed in 30% of patients. CONCLUSIONS: Patients with primary immunodeficiency disease treated at our center had acceptable transplant outcomes. This study supports the use of hematopoietic stem cell transplant in patients with primary immunodeficiency disease.

Atypical severe combined immunodeficiency caused by a novel homozygous mutation in Rag1 gene in a girl who presented with pyoderma gangrenosum: a case report and literature review.

Severe combined immunodeficiency (SCID) is a heterogeneous group of inherited defects involving the development of T- and/or B-lymphocytes. We report a female with atypical severe combined immunodeficiency caused by a novel homozygous mutation at cDNA position 2290 (c.2290C > T) in exon 2 of the RAG1 gene. The patient presented with bronchopneumonia, pyoderma gangrenosum (PG), pancytopenia and splenomegaly. She presented to us with pancytopenia and splenomegaly at the age of 11. Her condition was complicated by PG on left lower ankle at the age of 12. She experienced bronchopneumonia at the age of 15. She was diagnosed with RAG1 deficiency at the age of 16. Her immunological presentation included leucopenia and diminished number of B cells.