Iranian Journal of Child Neurology

Objective

Mental Retardation (MR) or Intellectual Disability is one of three chronic and disabling neurological disorders of children and adolescents. Its prevalence is estimated 1-3% of the population. MR is defined as significant sub-average intellectual functioning and adaptive behavior that become detectable before the age of 18. MR may come into view before 5 years as delay in at least two developmental domains which is called Global Developmental Delay (GDD).

The causes of mental retardation can be considered under the titles of prenatal, perinatal and postnatal factors. Prenatal causes account for approximately 60 -80 % of the etiological factors. All patients with GDD / MR should undergo a stepwise diagnostic approach, because a specific diagnosis leads to opportunity for treatment, future planning and genetic counseling. History, physical examination and neurodevelopmental examinations are the most important parts of the approach. Recent advances in cytogenetic investigations and neuroimaging studies have led to recognition of new disorders and improvement of the diagnostic yield.

Keywords: Mental retardation ; global developmental delay; diagnostic yield.

Objective

ultrasonography is among the most general evaluating methods for central nervous system (CNS) assessment, especially for detecting extra axial collection via anterior fontanel. There are few studies showing values of this technique in normal developing infants for detection of subarachnoid space width.

Association between age and sex and cerebrospinal fluid (CSF) spaces are controversial. Therefore, we conducted this study to evaluate the relationship between subarachnoid space and sex and age in Iranian infants.

Material & Methods

we used ultrasonography with a 7.5MHZ linear probe to evaluate 74 healthy infants who were referred to our departments for other reasons. Sinocortical width (SCW), craniocortical width (CCW),  interhemispheric width (IHW) and frontal horn width (FHW) were evaluated. Data was collected and analyzed using STAT 9.1 software.

Results

Fifty four percent of the patients were male and 45% were female. Mean age of cases was 71 days. Mean SCW was 2.8 ± 1.33 mm (5% and95% were 1.2-5.8). Mean CCW was 2.52±1.37mm (5% and 95% were 1.1 and 5.2mm, respectively) and mean IHW was 4.39±2mm (5% and 95% were 1.7 and 8mm, respectively). Mean FHW was 2.9+/-1.09mm in females and 3.52±1.34mm in males (5% and 95% were 1.4 and 5mm in females & 1.7 and 5.8mm in males, respectively). There was no significant difference in subarachnoid space width between boys and girls except for FHW which was wider in males than females. (P=0.037). All space diameters correlated with age and were wider in older infants.

Conclusion

Although our sample size was rather small for accurate conclusion, we found a normal range which was wider than western countries but similar studies conducted in China. Delayed maturation of arachnoid villi is one of the most important reasons of subarachnoid space widening in infants younger than one year which seems occur later in Iranian infants.

Key words: Ultrasonography;subarachnoid space; infant.

Objective

The first attack of unprovoked seizure is more frequent than recurrent one and neuroimaging is one of the main parts of the evaluation of these attacks in order to demonstrate the cause and predict the prognosis. The aim of this study was to determine the incidence of abnormal neuroimaging and related factors in children with the first unprovoked seizure.

Materials & Methods

A 7-year retrospective chart review was done on all children who were visited at Ali-Asghar Children's Hospital with the first unprovoked seizure and underwent neuroimaging including brain computed tomography or magnetic resonance imaging. The diagnostic criteria for the first unprovoked seizure in this study were based on the absence of any immediate or acute cause for the first seizure such as fever, head trauma, hypoglycemia, hypocalcemia, electrolyte imbalance and etc. We compared the rate of abnormal neuroimaging in patients according to different clinical and electroencephalographic (EEG) parameters.

Results

One hundred and forty two patients (63 females, 79 males) were included in the study. Twenty eight patients (20%) had abnormal neuroimaging. CT scan and MRI were done in 63% and 37% of the patients, respectively. The most common abnormalities were cerebral dysgenesis (n=9) and cortical brain atrophy (n=6). Patients who were abnormal on neurologic examination had a higher rate of abnormal imaging in comparison with neurologically normal children (51% vs. 10%) (p<0.05). Abnormal imaging was more frequent in children with an epileptiform activity in EEG compared to normal EEG (34% vs. 11%) (p=0.01). Although not statistically significant, partial type of seizure, seizure recurrence within 24-hr and age 3-12 year were also associated with a higher rate of abnormal neuroimaging.

Conclusion

Neuroimaging should be considered in any child with the first episode of unprovoked seizure, especially those with an abnormal neurologic examination or abnormal EEG.

Key word: Children; first unprovoked seizure; neuroimaging

Objective

Low birth weight (birth weight<2500g) can be one of the serious problems in children. The purpose of this study was to evaluate the developmental status of LBW preterm neonates admited at neonatal intensive care unit (NICU) at the corrected ages of six and 12 months via the Persian version of Ages and Stages Questionnaires (ASQ).

Materials & Methods

In a follow up study, fifty LBW preterm neonates admitted to Shahid Sadoughi Hospital NICU in 2008 were evaluated for developmental status at 6 and 12 months of age using ASQ.

Results

Twenty four boys and 26 girls with a mean gestational age of 31.3 ± 2.7 weeks and a mean birth weight of 1480.3 ± 422.8 grams were evaluated.

Developmental delay in gross motor and personal social skills domains were the most prevalent abnormal developmental status at 6 and 12 months of age.

Mean score in gross motor skills, personal social skills and porblem solving domains at 12 months of age were significantly higher in neonates with birth weight 1500 grams.

Mean score in fine motor skills, communication and problem solving domains at 12 months of age were significantly higher in neonates who were exclusively breast fed.

Conclusion

LBW and preterm infants admitted to the NICU showed degrees of developmental delay at the ages of 6 and 12 months, especially in the gross motor and personal-social developmental domains on the ASQ. So, evaluation and monitoring of development status of LBW should be emphasized for early and timely diagnosis, investigation, and management.

Objective

Prader-Willi Syndrome (PWS) is a genetic syndrome presenting with severe hypotonia and decreased agility. Growth Hormone (GH), which is often used in these patients to treat short stature and obesity, seems improve hypotonia, physical strength, activity, and locomotor developmental ability. The aim of

this study was to find the effects of growth hormone on agility and strength of these patients.

Material & Methods

In a prospective randomized controlled clinical trial in an out-patient pediatric endocrine clinic in Tehran, 21 PWS children (12 boys and 9 girls, 4 to 9 years old) were divided into either GH-treated or control groups and followed for two years. Agility run, sit ups, weight lifting, and inspiratory and expiratory strength were considered as the main outcome measures.

Results

All the outcome measures of the GH treated group showed a significant improvement compared to the control group.

Conclusion

GH causes a significant improvement in agility and strength of PWS children.

Key words: Preder-willi syndrome; PWS; growth hormone;agility; strength

Objective

While the effects of folic acid are well established in prevention of Neural Tube Defects (NTDs), these diseases have a high prevalence in Iran. In order to encourage folic acid supplement use in pregnancy, it is important to promote the awareness of women of childbearing age regarding folic acid importance in preventing NTDs. The aim of the present study was to study the knowledge and attitude of pregnant women on the effect of folic acid on pregnancy outcome and its use during pregnancy.

Materials and Methods

A questionnaire was completed by 400 women from postnatal and prenatal wards/clinics using random sampling. The questionnaire included questions regarding demographic information, folic acid consumption in pregnancy and the attitude and knowledge of the participants on folic acid  supplementation and the source of information on folic acid supplementation.

The questions were aimed at subjects' knowledge of folic acid effects on fetal growth and development and prevention of NTDs and not prevention of anemia. Data was analyzed by SPSS software (ver. 13.5).

Results

About 89.9% used folic acid supplements at some point of the pregnancy and 53.7% knew it was beneficial for the fetus. Approximately, 25% and 34.8% of those who used folic acid believed that it was most useful when taken preconception and during the first trimester, respectively. Only 15.4% knew it

could prevent NTDs. The most common information sources for folic acid use were physicians.

Conclusion

Awareness and use of folic acid were most prevalent among Iranian women, especially among educated ones. The results showed areas in which further work could be helpful to improve awareness regarding the benefits of folic acid.

Key words: Folic acid;pregnancy; knowledge; neural tube defects (NTDs

Objective

Autosomal Recessive Congenital Ichthyosis (ARCI) is a rare, heterogenous keratinization disorder of the skin, classically divided into two clinical subtypes, Lamellar Ichthyosis (LI) and Nonbullous Congenital Ichthyosi-formis Erythroderma (NCIE). Lamellar Ichtyosis is caused by mutations in the TGM1 gene that encodes transglutaminase 1 enzyme, which is critical for the assembly of the cornified cell envelope in terminally differentiating keratinocytes. TGM1 is a complex enzyme existing as both cytosolic and membrane-bound forms.

Moreover, TGM1 is proteolytically processed, and the major functionally active form consists of a membrane-bound 67/33/10-kDa complex with a myristoylated and palmitoylated amino-terminal 10-kDa membrane anchorage fragment. In this study, all 14 coding exons of TGM1 gene were investigated using PCRsequencing method in three Iranian patients with different phenotypes which are often caused by homozygote or compound heterozygote mutations and a homozygote mutation (G218S) in exon 4 and  three heterozygote mutations (R37K, D58N, D86N) in exon 2 were observed. The mutation (D86N) was seen in two patients simultaneously.

Key words: TGM1gene, mutation, ARCI, lamellar, ichthyosis, sequencing.