Neurodevelopmental evaluation of children with cyanotic congenital heart disease.

BACKGROUND: The aim of the study was to perform a neurodevelopmental evaluation of the children with cyanotic congenital heart disease and to determine the factors that affect the neurodevelopmental status. METHODS: The study was performed in the Pediatric Cardiology Department of Behcet Uz Children's Hospital between February and August 2013. Children between the age of six to forty-two months were included in the study and were evaluated in three groups (two patient groups and the control group). In group A, patients with isolated cyanotic congenital heart disease were enrolled. Group B consisted of the patients with cyanotic congenital heart disease with other concomitant diseases. Group C included the healthy control group. For the neurodevelopmental evaluation Bayley Scale of Infant Development- II (BSID-II) was used. Mental Developmental Index (MDI) and Psychmotor Developmental Index (PDI) scores were calculated. Factors possibly effective on neurodevelopment were evaluated. RESULTS: Thirty eight patients (32 in group A and 6 in group B) and 33 healthy subjects in group C were included in the study. Mean age of the patient group was 22.5±11.2 months. In group A mean MDI Score (82.5±14.7) was significantly lower than group C (92.3±6.9) (P=0.001). Similarly mean PDI Score in group A (82.0±18.2) was found significantly lower than group C (92.5±7.4) (P=0.003). When group A and B were compared, mean MDI and PDI scores were lower in group B, but the difference was not statistically significant. For group A, according to the psychomotor development index, 41.6% of the patients were found to be mildly to severely retarded. In terms of the mental development index, 34.4% of the patients had moderate or mild retardation. The sex, socioeconomic status, gestational age, birth weight, comorbidities, history of surgery and reoperation, length of stay in intensive care unit were not found influential on the MDI and PDI scores of the patients. CONCLUSIONS: Mental-motor retardation is frequently encountered in children with cyanotic congenital heart disease. These patients may benefit from motor, language, speech, developmental and educational therapies. For this reason, these children have to be under regular follow up for neurodevelopmental status.

Neurodevelopmental Outcome of Children with Congenital Hypothyroidism Diagnosed in a National Screening Program in Turkey.

OBJECTIVE: To study the factors affecting a neurodevelopmental status of children with congenital hypothyroidism, diagnosed on national screening program. METHODS: The study was performed in the Pediatric Endocrinology Department of Dr. Behcet Uz Children's Hospital between May 2012 and May 2013. Children with congenital hypothyroidism, aged between 24 and 36 months, diagnosed by national screening program were included in the study group. Healthy subjects at the same age group consisted of the control group. For the neurodevelopmental evaluation, Bayley Scale of Infant Development- II (BSID-II) was used. Factors possibly effective on neurodevelopment were evaluated. RESULTS: 42 patients and 40 healthy children (mean (SD) age, 29.4 (3.7) and 29.2 (3.5), respectively were included in the study. The mean MDI score [92.6 (7.07) vs 97.1 (9.69), P=0.14)] and the mean PDI score [97.8 (15.68) vs 99.1 (10.57), P=0.66)] in the study group and control group were not significantly different. Among the patient, 4.6% and 4.7% children were moderately retarded as per the MDI scores and PPI scores, respectively. The sex, socioeconomic status, birth weight, screening levels of TSH, severity of the congenital hypothyroidism, initiation time and the dosage of thyroid hormone replacement, length of the normalization period of TSH, and adherence to treatment were not found to affect the MDI and PDI scores of the patients. CONCLUSION: Some children with congenital hypothyrodism may have mild to moderate neurodevelopmental retardation, despite the early diagnosis and treatment, and thus need to be under regular follow-up for neurodevelopmental status.

A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel.

Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a wide phenotypic heterogeneity because of the additional clinical features. ASS and some syndromes including the autosomal dominant inherited form of Robinow syndrome, Noonan syndrome, pseudohypoparathyroidism, Silver-Russel and SHORT syndrome have some overlapping phenotypic features. Herein, we report a patient with ASS and a large anterior fontanel who was initially diagnosed as Robinow syndrome. He was found to have a novel c.1340+2 T>A splice site mutation on the FGD1 gene.

Asplenia in children with congenital heart disease as a cause of poor outcome.

The absence of a spleen is a well-known risk factor for severe bacterial infections, especially due to encapsulated bacteria. Congenital asplenia can be part of multiple congenital abnormalities as in heterotaxy including Ivemark syndrome with congenital anomalies of the heart or great vessels, or it can be isolated, which is extremely rare. In these cases, asplenia is an important factor effecting mortality. In this report, the clinical courses of five children with asplenia and concomitant minor or complex cardiac anomalies are presented. The ages of the children ranged between 1.5 and 17 months at the time of diagnosis. All of the cases had had a history of hospitalisation for infectious diseases before the diagnosis. The patient who was diagnosed at 17 months old had a history pneumonia, urinary tract infection, and bacterial meningitis beginning at five months old. Three children had complex cardiac anomalies, one child had ventricular septal defect, and one child had atrial septal defect. Howell-Jolly bodies were determined in peripheral blood smear in all of the patients. The diagnoses of asplenia were confirmed with spleen scintigraphy. One of the patients with complex cardiac anomalies died a short time after diagnosis, because of cardiac failure. The rest of the four patients were vaccinated for encapsulated bacteria and were taken under antibiotic prophylaxis. These children did not need hospitalisation for infectious diseases during the follow-up period (5-40 months). In asplenic children, early diagnosis, antibiotic prophylaxis, and immunisation for encapsulated bacteria can decrease the risk of morbidity and mortality.

Monocyte HLA-DR expression as predictor of poor outcome in neonates with late onset neonatal sepsis.

OBJECTIVES: Down regulation of HLA-DR expression on monocytes has been reported in adult sepsis. The aims of this study were, first to evaluate monocyte HLA-DR expression in late onset neonatal infection and second to investigate the prognostic value of monocyte HLA-DR expression at onset of symptoms for the final outcome. METHODS: Peripheral blood samples were taken from neonates, who were classified into three groups: late onset neonatal sepsis group (n=40); non-infective disorders group (n=24) and the control group (n=25). Monocyte expression of HLA-DR was determined by flow cytometry. RESULTS: The percentage of monocytes expressing HLA-DR was lower in neonates with late onset sepsis (p<0.05). Of the 40 septic patients enrolled in the study, 32 survived, while 8 died. The percentage of HLA-DR expressing monocytes was significantly lower in the non-survivor sepsis group (16.6%) compared with that in the survivor sepsis group (45.2%). The optimal cutoff value of HLA-DR for predicting mortality was 30% with 87% sensitivity and 81% specificity. Patients with monocyte HLA-DR expression