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PubMed2001

The behavioral phenotype in fragile X: symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders.

This study was designed to explore the behavioral phenotype of autism in a group of young children with fragile X syndrome (FXS). Twenty-four children with FXS, ages 21 to 48 months, were compared with two well-matched groups: 27 children with autism (AD) and 23 children with other developmental delays (DD), on two standardized autism instruments, as well as on measures of development and adaptive behavior. Two FXS subgroups emerged. One subgroup (n = 16) did not meet study criteria for autism. Their profiles on the autism instruments and the developmental instruments were virtually identical to the other DD group. The other FXS subgroup (n = 8, or 33% of the total FXS group) met study criteria for autism. Their profiles on the autism instruments were virtually identical to the group with autism. The finding of two FXS subgroups raises a hypothesis of additional genetic influences in the FXS autism group, warranting further genetic studies.

Autistic Disorder↗
PubMed2006

Autism spectrum disorder screening and management practices among general pediatric providers.

It is unclear to what extent general developmental/behavioral assessments are performed, if screening for autism spectrum disorders (ASDs) is being conducted, and what the barriers to providing such assessments are in routine pediatric practice. Therefore, this study examines (1) the factors influencing the use of general developmental and autism-specific screening tools in primary care pediatric practice, (2) the barriers to providing these assessments, and (3) pediatricians' beliefs regarding ASD prevalence. A cross-sectional survey was mailed in June 2004 to a 60% (n = 1119) random sample of Maryland and Delaware licensed pediatricians. In August 2004, a second mailing was sent to non-respondents. A total of 471 (42%) of the surveys were returned, and of those, 255 (54%) who practiced in general primary care were eligible. The sample was 47% male, 69% had more than 14 years' experience, 71% were in private practices, and 56% had fewer than 10 ASD patients. Most (82%) routinely screened for general developmental delays, but only 8% screened for ASD. The main reasons reported for not screening for ASD were lack of familiarity with tools (62%), referred to a specialist (47%), or not enough time (32%). Most specialist referrals (77%) were to a developmental pediatrician. Most pediatricians (71%) believed that ASD prevalence has increased, and nearly all attributed this to changes in diagnostic criteria and treatment. Service system limitations must be overcome to increase awareness and familiarity with screening tools, provide sufficient time and resources, improve screening, and enhance provider education.

Adult↗
PubMed1999

Intact survival in extremely low birth weight infants after delivery room resuscitation.

OBJECTIVE: None of the 20 previously reported infants weighing <750 g at birth who received cardiopulmonary resuscitation (CPR) in the delivery room (DR) survived. To clarify whether such resuscitation is futile in our center, we evaluated our experience with DR-CPR over a 4-year period. STUDY DESIGN: We retrospectively reviewed the outcomes of all inborn infants with birth weights <1000 g at University of California, San Diego Medical Center from January 1993 to December 1996. Surviving infants and matched control infants were followed for </=40 months' adjusted age using standardized neurodevelopmental assessments. RESULTS: Of the infants with birth weight <1000 g born during this period, 29% (51/177) died, including 44% of those <750 g and 16% of those >/=750 g. Overall, 19 infants received DR-CPR, of whom 12 were <750 g. Of the infants who received DR-CPR, 79% (15/19) survived, including 10 of 13 infants <750 g and 5 of 6 infants >/=750 g. Of the 15 survivors, 10 were followed beyond 10 months' adjusted age (median: 28 months). At last examination, 70% were both neurologically and developmentally normal. Two infants had cerebral palsy with mild cognitive and severe motor developmental delay. Of 7 infants with birth weight <750 g, 6 had normal neurodevelopmental outcomes. The mean composite mental and motor scores of DR-CPR survivors were 93 +/- 10 and 89 +/- 25, respectively. No differences were found in neurologic or developmental outcome between DR-CPR survivors and control infants matched for gestational age, sex, and year of birth. CONCLUSIONS: Our results indicate that intact survival is possible for infants weighing <750 g at birth after DR-CPR.

Cardiopulmonary Resuscitation↗
PubMed2005

Metamorphic inhibition of Xenopus laevis by sodium perchlorate: effects on development and thyroid histology.

The perchlorate anion inhibits thyroid hormone (TH) synthesis via inhibition of the sodium-iodide symporter. It is, therefore, a good model chemical to aid in the development of a bioassay to screen chemicals for affects on thyroid function. Xenopus laevis larvae were exposed to sodium perchlorate during metamorphosis, a period of TH-dependent development, in two experiments. In the first experiment, stage 51 and 54 larvae were exposed for 14 d to 16, 63, 250, 1,000, and 4,000 microg perchlorate/ L. In the second experiment, stage 51 larvae were exposed throughout metamorphosis to 8, 16, 32, 63, and 125 microg perchlorate/L. Metamorphic development and thyroid histology were the primary endpoints examined. Metamorphosis was retarded significantly in the first study at concentrations of 250 microg/L and higher, but histological effects were observed at 16 microg/L. In the second study, metamorphosis was delayed by 125 microg/L and thyroid size was increased significantly at 63 microg/L. These studies demonstrate that inhibition of metamorphosis readily can be detected using an abbreviated protocol. However, thyroid gland effects occur at concentrations below those required to elicit developmental delay, demonstrating the sensitivity of this endpoint and suggesting that thyroidal compensation is sufficient to promote normal development until perchlorate reaches critical concentrations.

Animals↗
PubMed1984

Acquisition of conversational response skills by young Down syndrome and nonretarded young children.

The acquisition of conversational response skills by young retarded and nonretarded children matched for chronological age (CA) and expressive linguistic ability was compared. Retarded children showed delayed response performance in comparison with CA-matched nonretarded peers. When matched for language level, however, retarded children demonstrated significantly greater response abilities than did nonretarded children. These findings indicate that the language development process of retarded children is developmentally delayed and different with respect to the synchrony of syntactic development and communicative competence. The findings further suggest that the acquisition of conversational response rules is not determined by the child's expressive language ability as measured by a mean length of utterance score, but is directly influenced by social-experiential factors as measured by the child's age.

Child, Preschool↗
PubMed1999

The 82F late puff contains the L82 gene, an essential member of a novel gene family.

Metamorphosis in Drosophila results from a hierarchy of ecdysone-induced gene expression initiated at the end of the third larval instar. A now classical model of this hierarchy was proposed based on observations of the activity of polytene chromosome "puffs" which distinguished "early" puffs as those directly induced by ecdysone and "late" puffs as those which become active as a secondary response to the hormone. We report here the isolation and characterization of the L82 gene corresponding to the extensively characterized late puff at 82F. L82 is a complex gene that spans at least 50 kb of genomic DNA, produces at least seven different nested mRNAs, and has homology to a novel gene family. In contrast to most previously characterized puff genes, the broad developmental expression pattern of L82 suggests that it is controlled by both ecdysone-dependent and ecdysone-independent regulatory mechanisms. L82 mutations were identified by transgene rescue of developmental delay and eclosion lethal phenotypes.

Amino Acid Sequence↗
PubMed2004

Presenting phenotype in 100 children with the 22q11 deletion syndrome.

UNLABELLED: The aim of this study was to investigate and describe the presenting phenotype of children with the 22q11 deletion syndrome and to describe common clinical features that could serve as guidelines in the clinical diagnostic process preceding genetic testing. A hospital-based study of 100 consecutive children and adolescents with 22q11 deletion was initiated. The patients were divided into two groups according to age at diagnosis: before or after 2 years of age. Clinical features were grouped into a core set of eight features: cardiac defects, non-visible/hypoplastic thymus or infection problems, hypocalcaemia, feeding difficulties, cleft palate/speech-language impairment, developmental delay/learning difficulties, characteristic dysmorphic features and other malformations and deformities. The median age at diagnosis was 6.7 years. Of all patients, 26% were diagnosed in infancy and 92% had a congenital cardiac defect, whereas 54% of those diagnosed later had a cardiac defect. A cleft palate was present in 25 cases and 44 had some other malformation or deformity. All presented with a combination of many of the core features. Of those diagnosed after 2 years of age, the majority presented with speech-language impairment, developmental delay or learning difficulties and recurrent infections. Characteristic mild dysmorphic features were noticed in all children. CONCLUSION: In spite of variable clinical expression, children with 22q11 deletion share a number of major features and have a characteristic phenotype. A high proportion have no cardiac defect and hence a risk of diagnostic delay. Increased awareness and knowledge among general paediatricians and other specialists who meet these children early in life is needed to reduce the diagnostic delay.

Abnormalities, Multiple↗
PubMed2004

Microcephaly associated with abnormal gyral pattern.

Primary microcephaly is a heterogeneous group of cerebral malformations either with a relatively well-preserved or an abnormal gyral pattern. We describe the MRI findings and clinical features of 14 children with the combination of microcephaly and an abnormal gyral pattern. All children except one were Arabs and nine out of the 14 patients were born to consanguineous parents. Seven patients showed features of a simplified gyral pattern with relatively preserved posterior fossa structures. Two boys had a cortical malformation in the agyria-pachygyria spectrum; one of these two patients showed agenesis of the corpus callosum and severe cerebellar hypoplasia as well. The microcephaly was associated with polymicrogyria and leukoencephalopathy in two patients, with cortical dysplasia and hypogenesis of the corpus callosum in one patient, with agyria-pachygyria with callosal and pontocerebellar dysplasia in one patient, and a simplified gyral pattern with severe cerebellar hypoplasia in one case. One patient died in the neonatal period and three in infancy. All patients, who survived the neonatal period, had developmental delay, intellectual disability, and neurological deficits, and nine suffered from epilepsy.

Cerebral Cortex↗
PubMed1994

Costello syndrome: natural history and differential diagnosis of cutis laxa.

Costello syndrome is emerging as a better delineated condition and should be included in the differential diagnosis of cutis laxa in association with postnatal growth retardation and developmental delay. We present a further case of Costello syndrome which illustrates the natural history of this condition.

Abnormalities, Multiple↗
PubMed2004

Long-term outcome of epilepsy surgery in patients with tuberous sclerosis.

Seizures associated with tuberous sclerosis (TS) can be difficult to control with medical therapy. The authors followed 22 patients with TS who underwent epilepsy surgery for 1 to 14 years to assess the value of epilepsy surgery and predictors of long-term postoperative outcome. Unifocal onset seizures and mild to no developmental delay at the time of surgery are predictive of excellent long-term outcome.

Adolescent↗
PubMed2006

The effects of microwave frequency electromagnetic fields on the development of Drosophila melanogaster.

PURPOSE: To investigate the effects of microwave frequency electromagnetic fields (EMF) on the development of Drosophila melanogaster. MATERIALS AND METHODS: Larvae of D. melanogaster were exposed to 10 GHz EMF continuously (3 h, 4 h and 5 h) and discontinuously (3 h exposure + 30 min interval + 3 h exposure). The percentages and times of transition from larvae to pupae and from pupae to adults were determined, and the mean offspring number was examined using the offspring of the females which had been exposed as larvae. RESULTS: No differences were found in the transition percentages from larvae to pupae and from pupae to adults (p > 0.05). However, it was found that the mean pupation time was delayed linearly with an increasing electromagnetic field (EMF) exposure period (p < 0.05). In the 3 + 3-h exposed group (E3 + 3), the mean offspring number was significantly less than that of the control (p < 0.05). CONCLUSIONS: 10 GHz EMF can cause developmental delay and decrease the number of offspring in D. melanogaster.

Animals↗
PubMed1985

Term infants with hypoxic-ischemic encephalopathy: outcome at 3.5 years.

A total of 167 term neonates with a diagnosis of hypoxic-ischemic encephalopathy (HIE) had detailed neurodevelopmental follow-up at 3.5 years of age. All 66 children with mild HIE were free from handicap; all seven with severe HIE were severely handicapped; and of the 94 with moderate HIE at birth, 21.3 per cent were handicapped. Mean IQ was significantly related to the category of HIE. Within the moderate HIE category, the neurological examination at discharge from the Neonatal Intensive Care Unit was more useful than the presence of neonatal convulsions in identifying children with subsequent developmental delay. Abnormalities on this examination related significantly to an increased number of handicapped children, decreased motor and language skills, and lower IQs. Although neonatal convulsions were associated with an increased number of handicapped children, they did not significantly affect most other developmental outcome measures. In term infants with documented HIE at birth, major neurodevelopmental dysfunction at 3.5 years depended more on prospectively established category of HIE than on other perinatal or social factors.

Asphyxia Neonatorum↗
PubMed2005

Neuronal migration disorders, genetics, and epileptogenesis.

Several malformation syndromes with abnormal cortical development have been recognized. Specific causative gene defects and characteristic electroclinical patterns have been identified for some. X-linked periventricular nodular heterotopia is mainly seen in female patients and is often associated with focal epilepsy. FLN1 mutations have been reported in all familial cases and in about 25% of sporadic patients. A rare recessive form of periventricular nodular heterotopia owing to ARGEF2 gene mutations has also been reported in children with microcephaly, severe delay, and early-onset seizures. Lissencephaly-pachygyria and subcortical band heterotopia represent a malformative spectrum resulting from mutations of either the LIS1 or the DCX (XLIS) gene. LIS1 mutations cause a more severe malformation posteriorly. Most children have severe developmental delay and infantile spasms, but milder phenotypes are on record, including posterior subcortical band heterotopia owing to mosaic mutations of LIS1. DCX mutations usually cause anteriorly predominant lissencephaly in male patients and subcortical band heterotopia in female patients. Mutations of the coding region of DCX were found in all reported pedigrees and in about 50% of sporadic female patients with subcortical band heterotopia. Mutations of XLIS have also been found in male patients with anterior subcortical band heterotopia and in female patients with normal brain magnetic resonance imaging. The thickness of the band and the severity of pachygyria correlate with the likelihood of developing severe epilepsy. Autosomal recessive lissencephaly with cerebellar hypoplasia, accompanied by severe delay, hypotonia, and seizures, has been associated with mutations of the reelin (RELN) gene. X-linked lissencephaly with corpus callosum agenesis and ambiguous genitalia in genotypic males is associated with mutations of the ARX gene. Affected boys have severe delay and infantile spasms with suppression-burst electroencephalograms. Early death is frequent. Carrier female patients can have isolated corpus callosum agenesis. Schizencephaly has a wide anatomoclinical spectrum, including focal epilepsy in most patients. Familial occurrence is rare. Initial reports of heterozygous mutations in the EMX2 gene have not been confirmed. Among several syndromes featuring polymicrogyria, bilateral perisylvian polymicrogyria shows genetic heterogeneity, including linkage to chromosome Xq28 in some pedigrees, autosomal dominant or recessive inheritance in others, and an association with chromosome 22q11.2 deletion in some patients. About 65% of patients have severe epilepsy. Recessive bilateral frontoparietal polymicrogyria has been associated with mutations of the GPR56 gene.

Cell Movement↗
PubMed2001

A transdisciplinary conceptual framework for the early identification of risks for communication disorders in young children.

The early identification of infants with communication disorders or at risk for communication delays is still one of the biggest challenges of early communication intervention (ECI) and threatens to compromise its efficacy. Current approaches to the early identification of young children at risk for communication disorders involve strategies aimed at the identification of general developmental delays and may not be sufficiently sensitive and specific enough to detect the early stages of communication disorders. The risks for mortality and health are often identified early in life, but the concomitant risks for communication disorders in the same young children are frequently not identified at that opportune time. The current study involved a descriptive survey, describing the identification of communication disorders in 153 subjects, whose data was stored in and retrieved from a customized ECI database system. The findings revealed that the subjects were assessed at the average age of 18 months, but that identifications of risk conditions occurred prenatally, at birth, after the perinatal period and later in life. The time of identification related to the different communication disorders identified in the subjects and caregivers played a major role in detecting the first signs of communication disorders in their children. In order to provide a guideline for clinical practice, a transdisciplinary conceptual framework towards a coordinated effort for the early identification of risks for communication disorders in young children is proposed.

Caregivers↗
PubMed1989

Joubert syndrome.

Joubert syndrome is an autosomal recessive condition in which there is a variable combination of central nervous system defects with a distinctive congenital retinal dystrophy, ocular motor abnormalities, and respiratory abnormalities in early infancy. The retinal dystrophy has been previously classified as a variant of Leber's congenital amaurosis. We report electrophysiologic and eye movement findings in a series of seven consecutive children with Joubert syndrome. Unlike patients with Leber's congenital amaurosis, all but one of these children had preserved flash and pattern-reversal visual evoked potentials. Six of the seven children had abnormalities of smooth pursuit, optokinetic nystagmus, and saccades. Six of the children had nystagmus: three had a pendular torsional nystagmus and three had a form of see-saw nystagmus. An alternating hyperdeviation was present in five of the patients, two of whom also had a tonic deviation of their eyes laterally. All seven patients had cerebellar vermis hypoplasia on a magnetic resonance imaging scan. Developmentally delayed children with an absent or highly attenuated electroretinogram should be investigated for Joubert syndrome.

Blindness↗
PubMed2004

Outcome at 5 years of age of SGA and AGA infants born less than 28 weeks of gestation.

The objective of this study was to compare the outcomes at 5 years of age of SGA and AGA children born < 28 weeks of gestation. The method used was a longitudinal follow-up of a cohort of 37 dyads of SGA and AGA infants matched by gestational age (GA), gender, and date of delivery. Mean GA was 26+/-1.2 weeks, and BW was 638+/-77 g for SGA and 833+/-134 g for AGA (P < 0.0001). The SGA infants remained lighter at 3, 24, and 60 months. Their head circumference was statistically smaller at 3 and 60 months, and their length remained lower but no longer statistically significant. There was no difference after the second year of life between SGA and AGA children in the need for rehospitalization (16% versus 11%) and the incidence of medical problems such as Otitis (38% versus 41%) and asthma (24% versus 30%). SGA exhibited more neurodevelopmental deficits (41% versus 30%) and severe handicaps, including CP, blindness, deafness, and mental retardation (22% versus 14%). Those deficits were seen predominantly in association with microcephaly, which was more prevalent in the SGA group. We conclude that the combination of severe prematurity and intrauterine growth retardation constitutes a serious developmental handicap and predisposes to physical and developmental delays. The presence of microcephaly further aggravates the prognosis.

Anthropometry↗
PubMed1994

Prognostic value of early MR imaging in term infants with severe perinatal asphyxia.

The prognostic significance of magnetic resonance imaging (MRI) in the neonatal period was studied prospectively in 43 term infants with perinatal asphyxia. MRI was performed between 1 and 14 days after birth with a high field system (2.35 Tesla). Neurodevelopmental outcome was assessed by a standardized neurological examination and the Griffiths developmental test at a mean age of 18.9 months. The predictive value of the various MRI patterns was as follows: Severe diffuse brain injury (pattern AII+III; n = 7) and lesions of thalamus and basal ganglia (pattern C; n = 5) were strongly associated with poor outcome and greatly reduced head growth. Mild diffuse brain injury (pattern AI; n = 7), parasagittal lesions (B; n = 7), periventricular hyperintensity (D; n = 2), focal brain necrosis and hemorrhage (E; n = 3) and periventricular hypointense stripes (on T2-weighted images; F; n = 3) led in one third of the infants to minor neurological disturbances and mild developmental delay. Infants with normal MRI findings (G; n = 9) developed normally with the exception of one infant who was mildly delayed at 18 months. The results indicate that MRI examination during the first two weeks of life is of prognostic significance in term infants suffering from perinatal asphyxia. Severe hypoxic-ischemic brain lesions were associated highly significantly with poor neuro-developmental outcome, whereas infants with inconspicuous MRI developed normally.

Asphyxia Neonatorum↗
PubMed2006

Quetiapine augmentation in lactation: a series of case reports.

Treating psychiatric disorders with pharmacotherapy in the breast-feeding period presents a dilemma as such treatment carries the risk of infant exposure to medication through breast milk. However, failure to institute pharmacotherapy in postnatal women in need of such treatment exposes both mother and baby to detrimental effects of the illness. Because women presenting with psychiatric disorders during the postpartum period often have complex sets of symptoms, monotherapy may not be sufficient for symptom resolution. In this case series of 6, we examined levels of psychotropic medications secreted in breast milk and performed developmental assessments of the exposed babies with the Bayley Scales of Infant Development, Second Edition. In 3 of the 6 cases, no medication was detected in the breast milk; in all but 1 case, estimated levels of infant medication exposure were calculated to be less than 0.01 mg/kg per day for each medication. Four of the 6 babies scored as being within normal limits on the Bayley Scales of Infant Development, Second Edition, whereas 2 showed mild developmental delays. In comparison to the 4 cases of typical development, the 2 showing mild delays did not have higher estimated levels of psychotropic medication exposure through breast milk. Based on these results, in our limited sample, there appears to be low levels of infant exposure to the medications through breast milk; no association was seen between developmental outcomes and exposure through breast milk of multiple pharmacological agents. These results should be interpreted with caution, and vigilance should be exercised when advising women on combinations of medications for severe mental illness who choose to nurse.

Adult↗