History Of Developmental Delay Research Articles

SAT-237 PSYCHOPATHOLOGY AND PSYCHOSOCIAL ADJUSTMENT IN PEDIATRIC CHRONIC KIDNEY DISEASE: RESULTS FROM THE KNOW-Ped CKD

Chronic kidney disease (CKD) requires management in daily life; accordingly, psychosocial development of pediatric patients with CKD is greatly affected due to delayed growth, frequent absences from school, and difficulties engaging in normal activities of peer relationships due to CKD. This study was to investigate the mental health problems of children and adolescent with CKD in KoreaN cohort study for Outcome in patients with Pediatric Chronic Kidney Disease (KNOW-Ped CKD). In KNOW-PedCKD, 437 children with stage 1 to 5 of CKD were enrolled. We evaluated 167 CKD patients aged from 6-18 years (mean age, 10.6±3.9 years, male, 117 (70.1%)). Demographic data and clinical history were collected. And the parents of subject completed the Korean-Child Behavioral Checklist (K-CBCL). We compared the clinical characteristics according to the clinical group defined as one or more abnormal finding in the subscale of K-CBCL. Of the total patients, 13.2% of children had a clinically significant internalizing problem such as depression, anxiety and somatic symptoms and 9.0% of children had an externalizing problem such as rule breaking or aggressive behavior. The distribution of clinical group was 33.5% in our cohort. In the clinical group, height Z score and weight Z score were lower, and growth hormone was more used than the non-clinical group. Developmental delay and preterm birth history were more common in the clinical group. Logistic regression analysis revealed that the growth retardation and history of developmental delay was significantly correlated with the clinical group in terms of psychopathology and adjustment problem. Significant proportions of children and adolescents with CKD suffer from mental health problem and adjustment problem. Combined physical illness and growth retardation associated with CKD may be more important than CKD stage, etiology, and the complications associated with the progression of CKD in terms of mental health.

SA105 - IDENTIFICATION OF PHENOTYPIC PREDICTORS OF PATHOGENIC COPY NUMBER VARIANTS IN A PSYCHOSIS POPULATION

Background Copy Number Variants (CNVs) significantly impact one's risk of developing a Neurodevelopmental Disorder (NDD). Eleven CNVs are robustly implicated in Schizophrenia (SCZ), increasing risk by 2 to 60-fold. Carriers are also at substantially higher risk of developing other NDDs (penetrance for autism/developmental delay/congenital malformations= 8–88%). Genetic testing is a standard of care for people with Autism Spectrum Disorder (ASD); 10–20% carry CNVs that may have implications for clinical management and genetic counselling. As The aim of this study was 1) to investigate clinically identifiable phenotypic features for association with putatively pathogenic CNVs, in a psychosis population, and 2) to investigate whether associated phenotypic features were predictive of CNV carrier status in patients with psychosis. Putatively predictive phenotypic characteristics may aid the identification of patients who would benefit from clinical genetic testing. Methods The primary analysis was carried out on a data set derived from an Irish SCZ research cohort with extensive clinical phenotype information and Genome-Wide Association Study (GWAS) data. Literature review identified neurodevelopmentally related phenotype variables for correlation analyses in a group of carriers of CNVs at 15 SCZ-associated loci, compared to a group without the CNVs. Phenotype variables identified included: early onset of symptoms, history of learning difficulties, specific learning disorder, remedial school support, low educational attainment, history of developmental delay, comorbid neurodevelopmental diagnosis (ASD, intellectual disability, epilepsy, ADHD), family history of NDD. The probability of pathogenic CNV carrier-status was analysed using logistic regression. A subsequent analysis was undertaken in a second psychosis data set (Cardiff) with similar neurodevelopmental phenotype and genetic data. Results In the Irish data set, nineteen individuals (1.6%) carried risk CNVs from a total sample of 1,215 cases. ‘Specific learning disorder’ (OR=9.0 (95% CI 1.38–39.98, p=0.03)); ‘History of learning difficulties’ (OR=4.0 (95% CI 1.55- 10.30, p=0.005)); ‘History of developmental delay’ (OR=5.8 (95% CI 1.91 - 16.44, p=0.005)) and ‘co-morbid NDD’ (OR=4.9 (95% CI 1.18 - 16.73, p=0.034)) were significantly associated with carrier status. ‘History of learning difficulties’ was significantly correlated with the other three variables. Logistic regression odds ratios for probability of a pathogenic CNV were 9.2, 5.3, 6.4 respectively in the presence of positive history of specific LD, history of developmental delay or co-morbid NDD. Analyses in the Cardiff data set (n=479) were supportive of a significant correlation between the CNV carrier group and presence of co-morbid NDD (p=0.0012). Correlation with history of developmental delay did not reach significance (p=0.13). Broad confidence intervals were observed in analyses in both data sets, indicating need for replication in larger datasets. Discussion These preliminary analyses indicate that symptoms of early developmental compromise, similar to symptoms observed in ASD and developmental delay may have clinical utility in screening for SCZ patients at increased risk of carrying pathogenic CNVs. The finding requires replication in larger datasets which is currently being pursued.

Clinical profile and maternal depression and anxiety in children and adolescents with intellectual disability: A study from outpatient child psychiatry

Background: With prevalence between 1% and 3%, intellectual disability (ID) not only affects the children and adolescents with this disability but also the caregivers, particularly the mothers. Aims: The aim was to study the clinical profile of children and adolescents with ID along with the prevalence of depressive and anxiety disorders in their mothers. Settings and Design: Cross-sectional descriptive study was conducted in Outpatient child psychiatry clinic. Methodology: Children and adolescents diagnosed with ID by a psychiatrist and clinical psychologist where subjected to a semi-structured questionnaire to record the sociodemographic status, antenatal history, perinatal history, and developmental history, presenting complaints, current behavioral problems, and medical history. Psychiatric comorbidity in the study participants and depression and anxiety disorders in their mothers was also assessed. Results: With the mean age of 8.68 years ± 2.63, majority (81.2%) belonged to the age group of 6–12 years with predominance of boys (60%). Antenatal factors were present in about 18%, whereas perinatal factors were present in about 48%. Delayed developmental history was present in 75%. Psychiatric comorbidity was present in about 32%, whereas current behavioral problems were present in about 47%. Majority (about 71%) had mild ID. Maternal depression and anxiety disorders were present in about 70%. Statistical Analysis: Descriptive analysis was performed with the Statistical Package for the Social Sciences. Conclusion: High rates of antenatal and perinatal factors with a history of developmental delay in a significant number of children and adolescents with ID were found. Mild ID predominated. Behavioral problems, psychiatric comorbidity, and medical comorbidity were frequently observed. Maternal depression and anxiety were also very high.

A 3 year old girl presented with abdominal distention since birth with developmental delay

This article has no abstract. The first 100 words appear below: A 3 year old girl, 3rd issue of consanguineous parents from the Feni District (south part of Bangladesh) immunized as per EPI schedule presented at the outpatient department with the history of progressive abdominal distension and not growing well since birth. She had also the history of developmental delay and recurrent respiratory tract infection. Still she can not stand without the support and unable to make a sentence completely. Her brother died at 5 months of age with abdominal distention with unknown cause. She had no history of jaundice, hematemesis, melena, convulsion and craving for food.

Use of Head Computed Tomography (CT) in the Pediatric Emergency Department in Evaluation of Children With New-Onset Afebrile Seizure.

Cranial computed tomography (CT) is not recommended in the routine evaluation of children with first afebrile seizure due to its low yield. The objective was to assess the current practice in our pediatric emergency department regarding the use of head CT in children with first afebrile seizure and to identify the factors that lead to ordering a head CT. Medical records of patients between 1 month and 18 years old evaluated at our emergency department for presentation of first afebrile seizure between 2010 and 2014 were retrospectively reviewed. Data extracted include age, gender, seizure type, single or multiple seizures at presentation, seizure duration, predisposing conditions to seizures (ie, history of developmental delay), and whether a head CT was performed. Contingency tables with chi-square analyses were used to determine which variables were associated with increased use of head CT. Of 155 patients (88M/67F) included in the study, 72 (46.5%) underwent head CT and only 3 had clinically significant findings that did not require acute management. There were no differences in CT use by age, sex, seizure type, seizure number, seizure risk factors, or findings on physical examination. Head CT was performed more frequently in cases with seizures ≥5 minutes and unknown seizure duration ( P = .04). Despite existing evidence, the emergent head CT rate was high in our cohort. Children with seizure duration of ≥5 minutes or of unknown duration were more likely to undergo head CT in our emergency department.

Recovery of language function and brain metabolism in a patient with crossed aphasia: 2-year follow-up of brain FDG PET images

ABSTRACTBackground: Crossed aphasia, a language disturbance in right-handed individuals secondary to a right hemisphere lesion, is rare, occurring in only l-2% of brain-lesioned patients. The precise neurological mechanisms of crossed aphasia are still unknown, and follow-up studies in the long term of language function are sparse.Aims: We describe a detailed follow-up evaluation of language function and resting brain glucose metabolism in a well-defined crossed aphasia patient after right middle cerebral artery (MCA) infarction.Methods & Procedures: A 49-year-old man was referred for the treatment of 3-week history of aphasia after right MCA infarction. He indicated a strong right-handed preference confirmed by the Edinburgh Handedness Questionnaire, and his family members are all right handed. There was no history of developmental delay or learning disability in childhood or previous neurological disease. Formal language evaluation was carried out in the subacute phase (3 weeks after onset) and the late phase (5 and 24 months after onset) with the Korean version of Western Aphasia Battery. He received 40-min sessions of conventional speech and language therapy by a qualified therapist of comparable experience, three times a week. The serial F-18 fluorodeoxyglucose positron emission tomography (FDG PET) scan was performed on 3 weeks and 24 months after onset, respectively. Subtraction PET imaging between baseline and follow-up evaluation was conducted with coregistration with the patient’s magnetic resonance imaging.Outcomes & Results: In the initial evaluation, his aphasia was categorized as Broca’s aphasia [aphasia quotients (AQs) 50.4, language quotients (LQs) 49.8]. Four months after the initial evaluation, the function of spontaneous speech, repetition, naming, and reading significantly improved, with a relatively moderate progress of comprehension (AQ 83.5, LQ 78.1). At 2-year follow-up, the function of spontaneous speech, repetition, naming, reading, and writing improved, but the comprehension revealed impairment with minimal improvement (AQ 88.9, LQ 86.8). The result revealed that the 20% increased area of F-18 FDG uptake in the subtraction PET image corresponded to the right basal ganglia, the right medial temporal lobe, both occipital lobes, and the left cerebellum.Conclusions: Our case showed long-term recovery of brain glucose metabolism and language function in a patient with mirror image crossed aphasia. The restoration of perilesional brain function and diaschisis possibly contributed to the recovery of the crossed aphasia.

Follow-up of Children with Kernicterus in Kano, Nigeria.

Acute bilirubin encephalopathy (ABE) is associated with long-term sequelae (kernicterus). It continues to be a significant issue in our region of Nigeria, accounting for much morbidity and mortality. Herein we report the outcome of neonates with ABE seen at our centre. We established a surveillance of children who had ABE and returned to follow-up from prospective cases of ABE (2012-2014). ABE was diagnosed based on a bilirubin-induced neurologic dysfunction score of ≥ 1. Kernicterus was subsequently established based on a history of developmental delays, hearing impairments and abnormal physical and neurologic examinations at follow-up age ≥3 months. Five hundred fifty-one neonates had hyperbilirubinaemia of whom 104 (18.8%) had ABE. Mean transcutaneous bilirubin using the Ingram icterometer was 18.3 mg/dl ± SD 1.9 [(12.5-19.1), total serum bilirubin of 18.1 ± 10.9] (range: 10.3-64 mg/dl). Sixty-five infants returned for follow-up (41 males and 24 females); mean age 9 months (22 days to 17 months). Most (58 of 65; 89.2%) had abnormal neurological findings and 15 (25.9%) had probable kernicterus. There is a critical need for a National Kernicterus Registry to document all cases of kernicterus and formulate an effective treatment and prevention policy.

Children with new-onset refractory status epilepticus from a multicenter US registry

Introduction: We describe the clinical presentation of new-onset refractory status epilepticus of unknown etiology in children. Methods: We analyzed patients within the pediatric Status Epilepticus Research Group (pSERG) cohort with the following inclusion criteria: 1) age 1–21 years; 2) first episode of RSE requiring more than 2 anti-seizure medications (ASM); 3) RSE episode between 06/2011 and 10/2016. We excluded patients with a history of developmental delay and/or epilepsy. We compare these patients to those with a first refractory status epilepticus (RSE) due to an identified etiology. Results: Fifty four patients were eligible. The median age was 5 years (IQR 1.9, 10.6). The most frequent etiologies were infection (15%), febrile status epilepticus (15%) and acute brain lesions (13%). No etiology was found in 18 patients (33%). In the group with unknown etiology, 15 patients (83%) required intubation and the median duration of ICU stay was 4.8 days (IQR 2, 49). These patients received a median of 3 ASM (IQR 2, 4) and 1 continuous infusion (IQR 0, 3). Compared to patients with an etiology, patients with unknown etiology received a larger number of immunotherapies (8 vs 5 patients; p = 0.02), were more often treated with the ketogenic diet (7 vs 2; p = 0.004) and were more likely to have a family history of epilepsy (6 vs 3; p = 0.045). The mean duration of RSE in the group with unknown etiology (12.25 h) was longer than in the group with etiology (4.25 h; p = 0.4). Fifty five percent of the patients with unknown etiology failed to return to baseline function at discharge compared to 36% in patients with an etiology (p = ns). Conclusions: One third of children with a first episode of RSE had an unknown etiology and seemed more likely to have a family history of epilepsy. These patients were more likely to receive immunotherapies and ketogenic diet.

Perioperative opioid administration in children with and without developmental delay undergoing outpatient dental surgery

Study objectivePrior research has indicated that children with developmental delay (DD) experience qualitative and quantitative differences in health care (Boulet et al., 2009). In the perioperative setting, there is concern that children with DD may be more likely to experience postoperative complications including agitation and nausea/vomiting than typically developing patients (TDP). Differences in the administration and dosage of perioperative opioids may contribute to this, however, empirical investigations are lacking. The purpose of this research was to compare the experience of postoperative nausea/vomiting and agitation, as well as to examine perioperative opioid administration, among children with DD as compared to TDP. DesignRetrospective original research. SettingOperating room, postanesthesia care unit. Patients1145 patients (1–20.9years, ASA I-III, 23.9% with a history of DD) who had undergone outpatient dental surgery involving extraction/restorations under general anesthesia. MeasurementsData was obtained and analyzed from the medical records of both DD and TDP across a five-year period. Data included the experience of agitation, nausea/vomiting, as well as perioperative medication administration. Main resultsPostoperative agitation and nausea/vomiting did not differ significantly between the DD and TDP groups. Children with DD were significantly less likely to receive opioids during both the intra and postoperative period (χ2=10.02, p=0.001 and χ2=8.08, p=0.003, respectively). Further, higher dosage of intraoperative opioids was predictive of reduced administration of postoperative opioids among TDP; however, no significant association was observed between the dosage of intraoperative opioids and administration of postoperative opioids in the DD group. ConclusionsChildren with DD experience similar rates of postoperative complications including nausea/vomiting and agitation as TDP. DD children were less likely to receive both intra and postoperative opioids than TDP. Importantly, while the dosage of intraoperative opioids was predictive of administration of postoperative opioids in the TDP group, this was not the case for the DD group. Clinical implications are discussed.

Report of a patient with fragile X syndrome unexpectedly identified by karyotype analysis

ABSTRACT Fragile X syndrome is considered the main known cause of inherited learning disabilities and it is characterized by mutations in the FMR1 gene. Our aim was to report an unexpected detection of a patient with fragile X syndrome by GTG-Banding karyotype analysis (G-bands after trypsin and Giemsa). The karyotype analysis identified Xq27.3 fragility in 17% of the metaphases analyzed and in 54% when using TC 199, consistent with the cytogenetic diagnosis of the syndrome. This case was the sole one to present the fra(X) tests in the high-resolution karyotype analysis in our care service, contributing to future diagnoses of patients with history of developmental delay.

Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update.

BackgroundSmith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive inborn error of cholesterol metabolism syndrome with neurocognitive manifestations. SLOS is the result of mutations in the gene encoding the 7-dehydrocholesterol reductase, which results in the elevation of the cholesterol precursor 7-dehydrocholesterol (7-DHC). Previous reports indicate that intellectual disability, behavioral disturbances, and autism symptoms are frequently part of the SLOS behavioral phenotype. In the current study, we characterize the developmental history and current behavior of 33 individuals with SLOS aged 4 to 23 years and report on biomarkers 7-DHC and 8-DHC in relation to cognition and behavior.MethodsThis was an observational case series, wherein participants with SLOS underwent extensive behavioral evaluation of cognitive function, adaptive function, autism symptoms, and problem behaviors, in addition to parent report of developmental milestones. Serum and CSF were contemporaneously obtained from the majority of participants.ResultsDevelopmental milestones such as walking, talking, and toileting were uniformly delayed. Overall levels of cognitive and adaptive functioning were low; no participant received adaptive behavior scores in the average range, and the mean level of cognitive functioning in the full sample was in the moderate range of impairment. Aggressive behavior was present in nearly half of participants. Although the majority of participants had elevated scores on the gold standard autism diagnostic instruments, only about half of participants received a clinical diagnosis of autism spectrum disorder. Finally, while CSF cholesterol was not found to correlate with cognitive or adaptive functioning, both serum and CSF 7-DHC and 8-DHC (and their ratios with cholesterol) were moderately and negatively correlated with functioning in this group.ConclusionsA history of developmental delay, followed by intellectual disability, is common in individuals with SLOS. Although autism spectrum disorder appears to be a frequent diagnosis in this population, it is apparent that the low level of functioning observed in SLOS may artificially inflate scores on standard autism assessments. Our findings further support that cholesterol precursors 7-DHC and 8-DHC are important biomarkers of the level of functioning in SLOS, especially regarding cognitive abilities, and thus may be to explore as mediators within the context of treatment trials.Trial registrationClinicalTrials.gov, NCT00001721, NCT00064792Electronic supplementary materialThe online version of this article (doi:10.1186/s11689-016-9145-x) contains supplementary material, which is available to authorized users.

MG-130 Pure duplication of 1q42.11-q44(QTER): Further clinical delineation of a rare terminal duplication syndrome

Background Pure partial trisomy of 1q42 to 1q44 (terminal end) is an extremely rare chromosomal abnormality reported in only 5 patients to date. We present one additional case with the breakpoints molecularly characterised by array CGH. Clinical features are similar to those previously described with 1q42 terminal duplication syndrome. Objective To contribute to the growing clinical knowledge of pure 1q42 terminal duplications. Design/method A G-banded karyotype with subsequent FISH to confirm the location of the breakpoints was performed. The breakpoints were further refined with an array Comparative Genomic Hybridization (CGH) using the oligoarray platform CytoChipTM ISCA 8 × 60K v2.0. Results Our case has a pure partial duplication of chromosome 1q42.11 to the terminal end, resulting from a one-way translocation of this segment to the distal long arm of chromosome 2. Array CGH identified this to be 24.8 Mb in size (nucleotides 222,299,920 – 247,179,262; NCBI36/hg 18). Array CGH did not identify a deletion on chromosome 2. Conclusions We describe a 12-year-old male with the distinctive appearance similar to those previously described with 1q42 duplication syndrome including macrocephaly, down-slanting palpebral fissures, a high arched palate, low-set, abnormal ears and cryptorchidism. Height measured 138.5 cm (just below the 3rd percentile) and weight measured 34.9 kg (3rd–10th percentile), while head circumference measured 53.8 cm (50th percentile). Additional features not previously reported include two conjoined teeth, mild pectus carinatum and microphallus. He has a history of developmental delay and intellectual disability, aggressive and self-injurious behaviour and obstructive sleep apnea.

PP02.4 – 2917: Cognitive outcome of isolated agenesis of the corpus callosum diagnosed during pregnancy: A clinical follow up of 46 patients

Objective Cognitive outcome of isolated agenesis of the corpus callosum (ACC) remains a critical prenatal situation with uncertain prognosis. Despite normal IQ and learning skills in most of the patients, the risk of specific learning disability is not clearly established. Moreover, several rare syndromes responsible for severe intellectual disability cannot be diagnosed with current prenatal genetic techniques. Only a few series have been published so far, with a small number of patients, or including both isolated and associated ACC. We describe a clinical prospective series of 46 patients with isolated ACC. Methods Between 2004 and 2013 an isolated ACC (either partial or complete) was diagnosed in 60 women referred to a regional prenatal diagnosis center. Inclusion criteria were: no other malformation on ultrasound (22 weeks) and MRI (28 weeks), no consanguinity, no familial history of developmental delay, no genetic defect on fetal karyotype or Array CGH. All patients were assessed with standardized batteries: Brunet Lezine before 3 years old, WPPSI-III at 3 and 5 years old, WISC-IV at 8 years old. Results Among 60 pregnancies, 12 abortions, one fetal death, one lost outcome, and 46 newborn (76% of the pregnancies). Among the sixteen younger children ( 70), and 20 (66%) had normal IQ and learning skills. Conclusion A rare risk of a severe cognitive impairment (2/46 patients; 4.3%) cannot be excluded and must be shared with the women. Nevertheless, 30% of patients had specific learning disabilities and two thirds had a normal outcome, which is consistent with other small series of isolated ACC

Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients.

Homocystinuria is a neurometabolic diseases characterized by symptoms include Neurodevelopmental delay, lens dislocation, long limbs and thrombosis. The patients who were diagnosed as homocystinuria marfaniod habits, seizure in the Neurology Department of Mofid Children's Hospital in Tehran, Iran between 2004 and 2014 were included in our study. The disorder was confirmed by clinical andneuroimaging findings along withneurometabolic and genetic assessment fromreference laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 20 patients with homocystinuria. A total of 75% of patients were offspring from consanguineous marriages. A total of 95% of patients had a history of developmental delay and 40% had developmental regression. A total of 75% had seizures from these 45% showed refractory seizures. Seizures among 13 patients werecontrolled with suitable homocystinuria treatment. The patients with homocystinuriawere followed for approximately 10 years and the follow-ups showed that the patients with an early diagnosis and treatment had more favorable clinical responses for growth index, controlled refractory seizures, neurodevelopmental status, and neuroimaging findings. Neuroimaging findings include brain atrophy and/or white matter involvement. According to the results of this study, we suggest that early assessment and detectionplayan important role in the prevention of disease progression and clinical signs. Homocystinuria in patients with a positive family history, developmental delays, or regression, refractory, or recurrent seizures should take precedence over other causes.

Lesch-Nyhan Syndrome in an Indian Child.

Hypoxanthine guanine phosphoribosyl transferase-1 (HGPRT-1) leading to Lesch-Nyhan syndrome (LNS) is one of the important causes of self-mutilation. Hereby, we report a case of LNS in a three and half-year-old male child, who presented with characteristic self-mutilating behavior. He had history of developmental delay, difficulty in social interaction, attention deficit and features of autism. His serum blood biochemistry was normal except for low hemoglobin levels and raised serum uric acid levels. With a diagnosis of LNS, the child was treated with allopurinol. With various modalities of physical restraint, his self-mutilating behavior came under control and currently the patient is being followed up.

English

Goldenhar syndrome is a variant of hemifacial microsomia. It is not usually associated with mental retardation; even if present it is mild to moderate. In this case both profound mental retardation and bilateral facial microsomia are present. Early identification and intervention can improve the intellectual functioning, otherwise favorable prognosis. INTRODUCTION: In 1952 Maurice Goldenhar described a variant of hemifacial microsomia called Goldenhar syndrome. It results from an aberrant development of the 1st and 2nd branchial arches. It has an incidence of approximately 1 in 5600, more common among males with a ratio of 2:1 and also common among whites.[1] Goldenhar syndrome is a form of occulo – auriculo vertebral spectrum (OAVS), as a minimal sign microtia must be present.[2] It presents bilaterally in 10-33% of cases.[3] About 10% of children may have mental retardation, usually mild to moderate.[4] Here we report a case of Goldenhar syndrome with profound mental retardation which is very unusual. CASE REPORT: A 1yr 5month old male child who was first born to 3rd degree consanguineously married couple, presented to hospital with history of fever, cough, hurried breathing, chest in drawing of two days duration. There was no history suggestive of cyanosis, recurrent pneumonia or hospital admissions in the past. There was no significant family history of major medical or genetic disorders. During the antenatal period, the mother underwent regular antenatal check-ups with only one antenatal scan done in the third trimester, which was told to be normal. This baby was delivered at term through caesarean section at our institution with a birth weight of 3 kg without any significant neonatal events. There was a history of developmental delay since birth with development age corresponds to 7-8months at the time of presentation. The child was sick looking with significant respiratory distress. He was euglycemic, afebrile, maintained saturation in room air with normal heart rate. Head to toe examination of the child revealed auricular abnormalities like microtia with pre-auricular tag bilaterally and ocular abnormalities like micro-opthalmous, micro-cornea, iris-coloboma and retinochoroidal coloboma bilaterally, child also had hypoplastic mandible as illustrated in figure 1. There was no facial asymmetry or cranial nerve involvement, no other obvious anatomical abnormality was present. Child had extensive crepitations on both the sides, other systems were normal. Child had a silent precordium with single first and second heart sound without any murmur. Liver span was 6cm along the mid-clavicular line, there were no focal neurological deficits. An initial working diagnosis of lower respiratory tract infection probably bronchopneumonia with syndromic facies was made. DOI: 10.14260/jemds/2014/3419

GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series).

GM2-Gangliosidosis disease is a rare autosomal recessive genetic disorder that includes two disorders (Tay-Sachs and Sandhoff disease).These disorders cause a progressive deterioration of nerve cells and inherited deficiency in creating hexosaminidases A, B, and AB. Patients who were diagnosed withGM2-Gangliosidosis in the Neurology Department of Mofid Children's Hospital in Tehran, Iran from October 2009 to February 2014were included in our study. The disorder was confirmed by neurometabolic and enzyme level detection of hexosaminidases A, B, and AB in reference to Wagnester Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 9 patients with Sandhoff disease and 9 with Tay Sachs disease. 83% of our patients were the offspring of consanguineous marriages. All of them had a developmental disorder as a chief complaint. 38%of patients had a history of developmental delay or regression and 22% had seizures. The patients with Sandhoff and Tay Sachs disease were followed for approximately 5 years and the follow-up showed all patients were bedridden or had expired due to refractory seizures, pneumonia aspiration, or swallowing disorders. Neuro-imaging findings included bilateral thalamic involvement, brain atrophy, and hypo myelination in near half of our patients (48%). According to the results of this study, we suggest that cherry-red spots, hyperacusis, refractory seizures, and relative parents in children with developmental delay and/or regression should be considered for assessment of GM2-Gangliosidosis disease.

Mystery Case: A young boy with myoclonic jerks

A 16-year-old right-handed boy presented for consultation for recent development of seizures. He is the product of a normal pregnancy and delivery without a history of developmental delay, head trauma, or family history of epilepsy. A year and a half prior to our consultation, the patient noted that his hand would suddenly jerk across the page while writing in his morning classes. Stress would exacerbate the jerks. Six months later, after staying up late the previous night, the patient awoke early and began to play on the computer when both of his hands suddenly jerked multiple times. He then fell over and began seizing. His mother witnessed tonic contraction of his body followed by clonic activity. He was brought by ambulance to the nearest hospital where a CT head was reported normal.

Adult-Onset Psychosis and Clinical Genetics: A Case of Phelan-McDermid Syndrome

Adult-Onset Psychosis and Clinical Genetics: A Case of Phelan-McDermid Syndrome

Methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an Iranian pediatric case series).

Methylmalonic acidemia is one of the inborn errors of metabolism resulting in the accumulation of acylcarnitine in blood and increased urinary methylmalonic acid excretion. This disorder can have symptoms, such as neurological and gastrointestinal manifestations, lethargy, and anorexia. The patients who were diagnosed as methylmalonic acidemia in the Neurology Department of Mofid Children's Hospital in Tehran, Iran, between 2002 and 2012 were included in our study. The disorder was confirmed by clinical findings, neuroimaging findings, and neurometabolic and genetic assessment in reference laboratory in Germany. We assessed the age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of 20 patients with methylmalonic acidemia. Eighty percent of the patients were offspring of consanguineous marriages. Half of the patients had Failure to thrive (FTT) due to anorexia; 85% had history of developmental delay or regression, and 20% had refractory seizure, which all of them were controlled. The patients with methylmalonic acidemia were followed for approximately 5 years and the follow-up showed that the patients with early diagnosis had a more favorable clinical response in growth index, refractory seizure, anorexia, and neurodevelopmental delay. Neuroimaging findings included brain atrophy, basal ganglia involvement (often in putamen), and periventricular leukomalacia. According to the results of this study, we suggest that early assessment and diagnosis have an important role in the prevention of disease progression and clinical signs.