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PubMed2006

Developmental toxicity of perfluorooctanoic acid in the CD-1 mouse after cross-foster and restricted gestational exposures.

Perfluorooctanoic acid (PFOA) is a persistent pollutant and is detectable in human serum (5 ng/ml in the general population of the Unites States). PFOA is used in the production of fluoropolymers which have applications in the manufacture of a variety of industrial and commercial products (e.g., textiles, house wares, electronics). PFOA is developmentally toxic and in mice affects growth, development, and viability of offspring. This study segregates the contributions of gestational and lactational exposures and considers the impact of restricting exposure to specific gestational periods. Pregnant CD-1 mice were dosed on gestation days (GD) 1-17 with 0, 3, or 5 mg PFOA/kg body weight, and pups were fostered at birth to give seven treatment groups: unexposed controls, pups exposed in utero (3U and 5U), lactationally (3L and 5L), or in utero + lactationally (3U + L and 5U + L). In the restricted exposure (RE) study, pregnant mice received 5 mg PFOA/kg from GD7-17, 10-17, 13-17, or 15-17 or 20 mg on GD15-17. In all PFOA-treated groups, dam weight gain, number of implantations, and live litter size were not adversely affected and relative liver weight increased. Treatment with 5 mg/kg on GD1-17 increased the incidence of whole litter loss and pups in surviving litters had reduced birth weights, but effects on pup survival from birth to weaning were only affected in 5U + L litters. In utero exposure (5U), in the absence of lactational exposure, was sufficient to produce postnatal body weight deficits and developmental delay in the pups. In the RE study, birth weight and survival were reduced by 20 mg/kg on GD15-17. Birth weight was also reduced by 5 mg/kg on GD7-17 and 10-17. Although all PFOA-exposed pups had deficits in postnatal weight gain, only those exposed on GD7-17 and 10-17 also showed developmental delay in eye opening and hair growth. In conclusion, the postnatal developmental effects of PFOA are due to gestational exposure. Exposure earlier in gestation produced stronger responses, but further study is needed to determine if this is a function of higher total dose or if there is a developmentally sensitive period.

Animals↗

PubMed2005

Parent's Evaluation of Developmental Status (PEDS) detects developmental problems compared to Denver II.

UNLABELLED: The early detection of developmental and behavioral problems in children is crucial for early intervention. The effectiveness of early detection depends on skills and interest of clinicians. Parents are the precious sources of information. The suspicions of parents about their children's development should be considered. The success of early identification is influenced by pediatricians who elicit, recognize, select clinical information and judge how to manage. The purpose of the present pilot study was to assess whether parents can be the sources of clinical information in detecting developmental problems of their children. Parent's Evaluation of developmental status (PEDS) is used to elicit parents which is the useful and widely used tool for developmental screening by measuring the sensitivity and sensitivity of PEDS. The additional goal is to find the prevalence of developmental problems in this population. MATERIAL AND METHOD: A total of 216 parent-child dyads, children 0-72 months of age, were recruited from the Pediatrics Outpatient Clinic and Child Health Supervision Clinic at Phramongkutklao Hospital from 1 July 2001 to 31 July 2002. Children who were chronically ill or had known developmental delay were excluded. Data regarding prenatal, perinatal and postnatal risk factors, health status, childrearing practice, parental education and family income were gathered. The Parents Evaluations of Developmental Status (PEDS) was completed by interview. The developmental screening test was administered by using Denver II. The authors compared the items of language, fine motor adaptive and gross motor skills. STATISTICAL ANALYSIS: Descriptive statistic for demographic data was used and diagnostic test was performed in order to detect sensitivity and specificity. The Kappa was administered for analyzing the relationship between PEDS and Denver II. RESULTS: Certain concern in developmental delay was 4.1 % and suspected Denver II was 3.24 %. Forty-two point five percent of the children who were suspected in Denver II were not concerned. Forty-seven percent of children who was concerned also failed in Denver II. Ninety-four percent of children had no concern and also had normal screening test. The sensitivity of PEDS was 57.14 percent, the specificity was 97.6 percent. The agreement of PEDS and Denver II was 0.43 (Kappa = 0.43). CONCLUSION: PEDS could play a role in detection of developmental problems but was not a good tool in screening. Therefore, significant concerns of parents about their children's development are the critical information for referral to have further management. In other words, parents concerns could have far more advantage than the screening test.

Child↗

PubMed2001

Neurodevelopmental delay associated with nonconvulsive status epilepticus in a toddler.

Nonconvulsive status epilepticus is a prolonged and continuous state of increased unawareness without overt motor seizures linked with repetitive generalized epileptic discharges. In children, it may occur de novo but more commonly may complicate a preexisting epileptic disorder. We report on a 2-year-old female who presented with global developmental delay as the main manifestation of nonconvulsive status epilepticus. Following valproic acid treatment, her motor, cognitive, and speech delays had gradually subsided and nearly completely resolved, in concert with normalization of electroencephalography (EEG). Hence, given a possible, albeit rare, presentation of nonconvulsive status epilepticus with global developmental delay, we suggest that EEG should be recommended in any infant who manifests neurodevelopmental delay.

Cerebral Cortex↗

PubMedDate not supplied

Clinical relevance of a dipole field in rolandic spikes.

The clinical presentation of 366 children with rolandic spikes was examined to determine whether the presence of a temporal-frontal dipole field is associated with a lower incidence of clinical abnormality. Comparisons were made between the clinical presentation of 99 children with temporal-frontal dipole discharges versus 267 children with nondipole rolandic discharges. Criteria examined were birth history, developmental milestones, school history, total number of seizures, neurological examination, and computed tomography (CT) findings. For all clinical parameters, except birth history and CT finding, there was a lower incidence of clinical abnormality in the group with dipole discharges (p less than 0.001). The clinical profile seen with temporal-frontal dipole discharges was very different than with nondipole rolandic spikes. Children with dipole discharges less often presented with frequent seizures (10%), developmental delay (18%), school difficulties (34%), or abnormal neurological exam (22%). In contrast, children with nondipole rolandic discharges often presented with a history of frequent seizures (55%), developmental delay (55%), school difficulties (60%), and an abnormal neurological exam (63%). The incidence of clinical abnormalities in the nondipole group exceeded that found in our control population in all areas. Temporal-frontal dipole discharges are associated with a lower incidence of clinical abnormality than are nondipole rolandic spikes. These discharges may represent a benign functional focus.

Adolescent↗

PubMed2004

Small marker chromosomes in two patients with segmental aneusomy for proximal 17p.

We report a nine-year-old girl (patient 1934) and a five-year-old boy (patient 2170) with small, de novo supernumerary marker chromosomes (SMCs) derived from proximal 17p. The clinical features of patient 1934 include developmental delay, triangular face, prominent forehead, low set ears, dental abnormalities, a high arched palate, long, flexible fingers, and joint laxity. Patient 2170 is affected with developmental delay, oral-motor dyspraxia/verbal apraxia, thick upper and lower lips, bilateral fifth finger clinodactyly, joint laxity and mild hypotonia. G-banded chromosome analysis of patient 1934 revealed mosaicism for a SMC in 72% of peripheral lymphocytes analyzed, whereas analysis of patient 2170 identified a smaller SMC present in 100% of cells analyzed. Fluorescence in situ hybridization (FISH) studies demonstrated that both of the SMCs derived from 17p10-p11.2. Using FISH and array-CGH analysis, the proximal breakpoints mapped within the centromere and the distal breakpoints were both located within the Smith-Magenis syndrome (SMS) common deletion region. We compare the clinical characteristics of our patients with those previously reported to have either SMC including 17p or duplications of proximal 17p in an effort to further delineate the phenotype of trisomy 17p10-p11.2 and to elucidate genotype-phenotype correlations.

Abnormalities, Multiple↗

PubMed2005

Compulsive behavior in Prader-Willi syndrome: examining severity in early childhood.

Prader-Willi syndrome (PWS) is a genetic disorder characterized by hyperphagia and food preoccupations. Researchers indicate that individuals with PWS, including young children, exhibit food and non-food-related compulsions. Normative rituals are also often present among typically developing preschoolers. However, it is unclear how these behaviors affect the child. Although preschoolers with PWS exhibit more types of rituals than other populations, it is uncertain if the severity of these behaviors differs from the rituals experienced during normative development. Thus, the purpose of this research was to determine whether the ritualistic behaviors exhibited by preschoolers with PWS differ in severity from those exhibited during normative development. We also sought to identify whether non-food ritualistic behavior was related to the hyperphagia in PWS. Parents of 68 children with PWS, 86 typically developing children, and 57 children with developmental delays completed questionnaires on rituals and eating behavior. Children with PWS exhibited more severe ritualistic behavior than typically developing children but not other children with developmental delays. However, the severity of non-food-related rituals was related to the severity of eating behavior in PWS. We hypothesize that this link between hyperphagia and non-food-related compulsivity may share a common underlying neurobiological mechanism.

Child↗

PubMed2003

The predictive accuracy of pre-adoption video review in adoptees from Russian and Eastern European orphanages.

Many internationally adopted children have a pre-adoption video for prospective adoptive parents to review before their commitment to adopt. No published report to date has examined the value of the pre-adoption video evaluation (PreAVE) as a predictor of post-adoption developmental status. The present study was designed to determine whether PreAVE can predict the post-adoption developmental status of internationally adopted children. In this retrospective chart review, children who presented to the Yale International Adoption Clinic between December 1998 and September 2000, and had both a PreAVE and a post-adoption developmental evaluation (PosADE) were selected (N = 20) PreAVE was done using the Denver II and PosADE was done using the Bayley Scales of Infant Development, 2nd edition. The Pearson r coefficient between the two ratings was determined and sensitivity and specificity were calculated. There was a significant correlation between the PreAVE and the PosADEs (r = 0.53, p = 0.01).The sensitivity of PreAVE to detect moderate to severe developmental delay was 43% and the specificity was 85%. Although ratings of development on PreAVE are similar to PosADE, the ability to detect moderate to severe developmental delay by video review is limited.

Adoption↗

PubMed1997

Tandem duplication of 11p12-p13 in a child with borderline development delay and eye abnormalities: dose effect of the PAX6 gene product?

We report on a girl with a duplication of chromosome band 11p12-->13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6). The girl had borderline developmental delay, mild facial anomalies, and eye abnormalities. Eye findings were also present in most of the 11 other published cases with partial trisomy 11p, including 11p12-->13. Recently, it was shown that introduction of additional copies of the PAX6 gene into mice caused very variable eye abnormalities. Therefore, a PAX6 gene dosage effect is likely to be present in mice and humans. The central nervous system may be less sensitive to an altered PAX6 gene dosage, which is consistent with the borderline developmental delay in the present patient. Urogenital abnormalities were absent in this patient and in most of the other patients with partial trisomy of 11p. Therefore, the effect of a WT1 gene duplication on the embryological development of the urogenital tract remains uncertain.

Chromosome Aberrations↗

PubMed1994

Efficacy of part- and full-time early intervention.

The effectiveness of an early intervention program to remediate developmental delays in children age birth to 3 years was examined in part- and full-time groups (Study 1). Significant improvements on age-appropriate measures of developmental standing were observed for both groups, with the greatest gains observed for the full-time group. In Study 2, the stress of parents with developmentally delayed children was measured on the Parental Stress Inventory. Reductions in stress related to children's characteristics and dysfunctional parenting skills were observed on some subscales, supporting prior research which indicated extension of the outcomes of early intervention beyond the child was desirable.

Child, Preschool↗

PubMed1983

Developmental effects in the cerebral lateralization of autistic, retarded, and normal children.

This experiment was designed to determine whether increasing evidence of generalized developmental delay in early-onset psychosis was apparent at a cortical level in autistic children. Using magnitude of dominant ear advantage as an indicator of relative cerebral dominance, unwarned simple reaction time (RT) to monaural presentation of tones was investigated in matched groups of autistic, retarded, and normal children. Analysis of RTs and relative ear advantage as a function of group membership and chronological age indicated that the autistic children showed significant developmental delay in both RT and the establishment of cerebral dominance compared to the control groups. These results thus provide additional evidence of generalized maturational delay at a cortical level in early-onset psychosis, and suggest that the maturational delay of the autistic children is more extensive than the developmental deficits implied by their intellectual impairment.

Adolescent↗

PubMed2003

Outcome of zone 1 retinopathy of prematurity.

PURPOSE: To describe the outcome in a series of patients with pre-threshold and threshold zone 1 retinopathy of prematurity. METHODS: We performed a retrospective analysis of 12 babies, 24 eyes, with zone 1 retinopathy of prematurity, treated between 1992 and 2002 with diode laser treatment. RESULTS: Ten out of the 12 babies had an unfavourable outcome. The only patients with successful anatomical outcomes were those treated before threshold disease occurred. All babies had developmental delay or neurological disability. CONCLUSION: Zone 1 retinopathy of prematurity has a poor anatomical and visual prognosis and many of the babies in our study had developmental delay and neurological disability. Earlier treatment may improve the visual outcome.

Cryotherapy↗

PubMedDate not supplied

Sturge - Weber syndrome.

Sturge - Weber syndrome (SWS) is a rare disorder that occur with a frequency of approximately 1 per 50,0001. It isa neurocutaneous syndrome, characterized by a facial vascular birthmark and neurological abnormalities. The hallmark is intracranial vascular angioma, most often involving the occipital and posterior parietal lobes, but it can also affect the other cortical regions. An ipsilateral facial cutaneous vascular malformation (port wine nevus)usually affects the upper face. Other clinical findings associated with SWS are seizures, glaucoma, hemiparesis,mental retardation and delayed developmental milestones. This article reports a case of 8 years old boy who presented with weakness of right half of body since birth, mental retardation and delayed developmental milestones. Clinical examination revealed deep purple nevus on left lower face, and less power of left upper & lower limbs.X-ray skull showed calcification. C.T. Scan of brain revealed curvilinear calcification with focal atrophy.

Brain↗

PubMed1990

Psychiatric disorders at five years among children with birthweights less than 1000g: a regional perspective.

The relationship between extremely low birthweight (ELBW) and psychiatric disorder was investigated in a cohort of children of 500 to 1000g birthweight, born between 1980 and 1982. At five years of age data were collected for 82 of 90 survivors on psychiatric symptoms, parent-reported developmental delay and various aspects of psychosocial disadvantage. Compared with controls, ELBW children did not come from more disadvantaged environments, but were much more likely to experience developmental delay and problems with motor co-ordination. 16 per cent had an attention deficit disorder with hyperactivity (ADDH), compared with 6.9 per cent of controls. Rates of conduct disorder and emotional disorder were not raised, indicating that ELBW is a specific risk factor for ADDH. Controlling for the effect of neurodevelopmental problems rendered the association between ELBW and ADDH non-significant.

Attention Deficit Disorder with Hyperactivity↗

PubMed2001

Thrombocytopenia absent corpus callosum syndrome: third case of a distinct clinical entity.

Thrombocytopenia absent corpus callosum, characterized by refractory thrombocytopenia, agenesis of the corpus callosum, hypoplastic cerebellum, abnormal facies, and developmental delay, represents a relatively newly described clinical entity. An 18-month-old girl with agenesis of the corpus callosum, hypoplasia of the cerebellar vermis, hypotonia, and severe developmental delay presented with thrombocytopenia. She had a distinctive facies with microcephaly, broad nasal root with upturned nose, small upper lip, and micrognathia. A bone marrow aspirate and biopsy showed normal cellularity with dysplastic megakaryocytes. Thrombocytopenia absent corpus callosum is compared with other conditions characterized by congenital non-immune thrombocytopenia.

Abnormalities, Multiple↗

PubMed1999

Health and educational outcomes of children who experienced severe neonatal medical complications.

To determine the long-term developmental and educational outcomes of a sample of low birthweight infants with intraventricular hemorrhage (IVH), the authors conducted developmental assessments and interviews 8 years after the initiation of an early intervention project. At the time of the follow-up, 62% of the children were experiencing some developmental or behavior problems, with visual impairments, cerebral palsy, and attention deficits occurring most frequently. Grade of IVH and the number of days spent in the neonatal intensive care unit were the best predictors of later developmental delays. The sample also scored below average on school achievement; approximately 30% of those in school were eligible for special education services. These findings corroborate results from investigations with similar populations whose birth characteristics put them at risk for subsequent developmental delay.

Achievement↗

PubMed1998

Duplication 6q22-->qter: definition of the phenotype.

We report on a girl with duplication of 6q22.32 --> qter and microcephaly, frontal bossing, facial anomalies, and webbed neck. She has congenital heart disease, renal hypoplasia, and hearing loss along with severe developmental delay. Published reports of seven other patients are reviewed and compared. The most frequent anomalies include microcephaly, abnormal face, webbed neck, congenital heart disease, limb contractures, and developmental delay.

Abnormalities, Multiple↗

PubMed2006

Mutations in KCNJ11, which encodes Kir6.2, are a common cause of diabetes diagnosed in the first 6 months of life, with the phenotype determined by genotype.

AIMS/HYPOTHESIS: Heterozygous activating mutations in KCNJ11, which encodes the Kir6.2 subunit of the pancreatic ATP-sensitive potassium (K(ATP)) channel, cause both permanent and transient neonatal diabetes. A minority of patients also have neurological features. The identification of a KCNJ11 mutation has important therapeutic implications, as many patients can replace insulin injections with sulfonylurea tablets. We aimed to determine the age of presentation of patients with KCNJ11 mutations and to examine if there was a relationship between genotype and phenotype. SUBJECTS AND METHODS: KCNJ11 was sequenced in 239 unrelated patients from 21 countries, who were diagnosed with permanent diabetes before 2 years of age. RESULTS: Thirty-one of the 120 patients (26%) diagnosed in the first 26 weeks of life had a KCNJ11 mutation; no mutations were found in the 119 cases (0%) diagnosed after this age. Fourteen different heterozygous mutations were identified, with the majority resulting from de novo mutations. These include seven novel mutations: H46Y, R50Q, G53D C166Y, K170T, L164P and Y330S. All 11 probands with the most common mutation, R201H, had isolated diabetes. In contrast, developmental delay in addition to diabetes was seen in four of five probands with the V59M mutation and two of four with the R201C mutation. Five patients with developmental delay, epilepsy and neonatal diabetes (DEND) syndrome had unique mutations not associated with other phenotypes. CONCLUSIONS/INTERPRETATION: KCNJ11 mutations are a common cause of permanent diabetes diagnosed in the first 6 months and all patients diagnosed in this age group should be tested. There is a strong genotype-phenotype relationship with the mutation being an important determinant of associated neurological features.

Amino Acid Substitution↗

PubMed2005

Persistent hyperinsulinaemic hypoglycaemia of infancy: 15 years' experience at the Royal Children's Hospital (RCH), Melbourne.

OBJECTIVE: To review the clinical outcome and report our experience of patients with persistent hyperinsulinemic hypoglycaemia of infancy (PHHI). METHODS: Retrospective case series of 14 patients diagnosed with PHHI at the Royal Children's Hospital in Melbourne in the period between 1988 and 2004. Diagnoses of insulinoma, Beckwith syndrome and transient hyperinsulinism were excluded. RESULTS: Six patients (43%) presented on day 1, with a median presenting age of 2.75 months; ten (71.4%) presented with seizures. All were initially treated with diazoxide, of whom six (43%) recovered and are off medication, while four patients (28.5%) required surgery (twice in one patient). One developed permanent diabetes mellitus. Developmental delay occurred in nine (64%), and was severe in two (14.5%) patients, possibly associated with delayed treatment. CONCLUSIONS: PHHI is a rare but severe condition. The aim of management of PHHI should be on the one hand to prevent mental retardation and developmental delay due to severe and persistent hypoglycaemia, and on the other hand to avoid the induction of diabetes mellitus following surgery. Satisfactory outcome depends on early effective medical treatment and judicious use of surgery by an experienced operator.

Adolescent↗