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Results for “Developmental delay”

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PubMed1990

Cytogenetic analysis of mouse oocytes and one-cell zygotes as a potential assay for heritable germ cell aneuploidy.

Assays are needed for detecting chemically-induced aneuploidy, for investigating the mechanisms of aneuploidy production, and for obtaining heritable germ cell data that can be used to formulate human risk estimates. In this report, we describe the results of experiments designed to study aneuploidy in metaphase II (MII) oocytes induced by intraperitoneal (i.p.) or oral dosages of colchicine, and to investigate the proportion of aneuploid oocytes transmitted to one-cell (1C) zygotes following oral administration of colchicine immediately following HCG. The proportions (and percentages) of hyperploid MII oocytes were: 1/606 (0.2), 37/504 (7.3), 152/731 (20.8) and 75/319 (23.5) for control, 0.2, 0.3 and 0.4 mg/kg, respectively for i.p. administration of colchicine; and 3/216 (1.4), 8/539 (1.5), 81/511 (15.9), 71/398 (17.8) and 98/391 (25.1) for control, 1.0, 2.0, 3.0 and 4.0 mg/kg, respectively for oral administration of colchicine. The proportions of hyperploid 1C zygotes were 2/327 (0.6), 21/389 (5.4), 62/435 (14.3) and 69/438 (15.8) for control, 2.0, 3.0 and 4.0 mg/kg, respectively for oral colchicine. The proportions of hyperploid MII oocytes and 1C zygotes were significantly higher (Chi-square, P less than 0.01) at each i.p. or oral dose (except 1.0 mg/kg oral) than in the controls. The frequencies of hyperploidy induced by oral doses of colchicine were greater in MII oocytes than in 1C zygotes. We also found that the frequency of developmentally delayed and polyploid 1C zygotes increased with the dose of oral colchicine. Developmentally delayed zygotes contained male-derived chromosomes and female-derived fragmented pronuclei and pronuclei with decondensed chromosomes. These results indicate that higher doses of oral colchicine are needed to induce comparable levels of aneuploidy found after i.p. administration, and that aneuploid oocytes are fertilized and reach first cleavage metaphase. In addition, colchicine induces a spectrum of events including aneuploidy, polyploidy and developmentally delayed oocytes and zygotes.

Administration, Oral↗

PubMedDate not supplied

Long-term outcome in treated combined methylmalonic acidemia and homocystinemia.

PURPOSE: To describe the clinical and biochemical features and long-term outcome of a cohort of eight patients with methylmalonic acidemia and homocystinuria (cblC). METHODS: Documentation of clinical features at birth and longitudinal follow-up of the biochemical and clinical response to treatment with daily oral carnitine and intramuscular hydroxocobalamin observed during continuous follow-up for an average of 5.7 years. RESULTS: Our patients had an increased incidence of congenital malformations including microcephaly (<5%) at birth (2 of 8), congenital heart disease (2 of 8), dysmorphic facial features (1 of 8), and thyroglossal duct cyst (1 of 8). Postnatal hydrocephalus (2 of 8) and hip dislocation caused by ligament laxity (1 of 8) were also noted. One patient had profound visual impairment before 6 months of age secondary to cblC retinopathy, and two patients had abnormal retinal pigmentation with normal visual function. All patients presented with poor growth, feeding problems, and/or seizures. No patients had acute acidotic crises before or after treatment. All patients had dramatic reduction of plasma free homocystine and urine methylmalonic acid excretion after initiation of therapy with carnitine, intramuscular (IM) hydroxocobalamin (OHcbl) and, in two cases, oral betaine. Growth was significantly improved in most cases after the initiation of therapy, and microcephaly was resolved in one patient. All patients were developmentally delayed regardless of age of treatment onset, although two patients had relatively mild developmental delay. CONCLUSION: cblC patients may have an increased incidence of congenital malformations suggesting prenatal effects of abnormal cbl metabolism. Treatment with IM OHcbl and carnitine successfully corrects the biochemical abnormalities and improves growth. Developmental delay of variable severity is always present regardless of age at diagnosis or treatment onset.

Adolescent↗

PubMed2000

Family factors and social support in the developmental outcomes of very low-birth weight children.

This study used data that were representative of the normative population of all infants born in 1988 and were followed during the first 3 years of life. Large developmental delays and limitations in function were common among children weighing less than 1500 g at birth. Among very low-birth weight infants, minority status and living in a household headed by a single mother further worsen the disadvantages associated with a very low birth weight. Nor could the disadvantages associated with very low birth weight be accounted for by controls for other risk factors or buffering statuses and behaviors. Among all children (including those of very low birth weight) poverty, reliance on Medicaid and other government sources for health insurance, a history of risky behaviors, and inadequate prenatal care are the major risk factors for developmental delays, limitations in function, and impairment at birth. State program benefit levels have no obvious effects on child outcomes, taking into account participation in individual programs. An important finding in light of TANF is that maternal work, the use of child care, and the form and cost of child care did not influence developmental delay, limitation in function, or impairment, the outcomes that we were able to measure during the first 3 years of life. TANF eligibility requirements, however, may increase difficulty in obtaining prenatal and other medical services for mothers and children in need--factors shown here to be related strongly to increased risk of low birth weight and developmental delays, limitations, and impairments. Race and ethnicity, poverty status, and family structure are fundamental factors in early child development and function. Minority status, poverty, and single-parent households greatly increase the likelihood that a mother will engage in risky behaviors (smoking, alcohol use, illegal drug use) during pregnancy and receive inadequate prenatal care. Risky behaviors and inadequate prenatal care are the major risk factors for a baby of very low birth weight. When perinatologists first encounter a new patient who is of very low birth weight they often see an infant who is minority, in poverty, and in a single-parent household. Although such children did more poorly in development and function by age 3, the major effects of these variables were through the selectivity of such children into very low birth weight; the direct impact of these factors on development is somewhat muted. This research suggests there are a number of policies that can reduce development delays and functional limitations among children in the United States. Programs that are targeted to a mother and child (such as WIC, AFDC, health insurance coverage, and possibly the more recent TANF programs) significantly reduced the risk an infant will be of very low birth weight. Access and use of adequate prenatal care are essential. Programs designed to combat maternal behaviors that place the fetus at risk (smoking, alcohol, and illegal drug use) can be very successful in reducing the likelihood an infant will be of very low birth weight. An additional payoff from such programs comes after the birth, because even taking into account birth weight, these variables negatively impact on early childhood development and function. Single-parent family structure, race and ethnic minority status, and poverty status also are known to impact on kindergarten readiness, so that we expect a delayed impact of these variables on the child. The strength of this article is the use of normative population data to assess the role of birth weight in child outcome. We examined prenatal risk factors for a baby of very low birth weight, traced the manner by which these selective risks are reflected in the composition of very low-birth weight babies, demonstrated how a very low birth weight was fundamental to delays in development, and identified risk factors and potential buffers in this process. (ABSTRACT TRUNCATED)

Birth Weight↗

PubMed2005

An autosomal dominant high bone mass phenotype in association with craniosynostosis in an extended family is caused by an LRP5 missense mutation.

Gain-of-function mutations in LRP5 have been shown to cause high BMD disorders showing variable expression of some clinical symptoms, including torus palatinus and neurological complications. In an extended family, we were able to add craniosynostosis and developmental delay to the clinical spectrum associated with LRP5 mutations. We report on an extended four-generation family with 13 affected individuals (7 men and 6 women) in which an autosomal dominant type of osteosclerosis segregates. Osteosclerosis was most pronounced in the cranial base and calvarium, starting in early childhood with variable expression and a progressive character. Craniosynostosis at an early age was reported in four affected family members (two males and two females). The patients also presented with dysmorphic features (macrocephaly, brachycephaly, wide and high forehead, hypertelorism, prominent cheekbones, prominent jaw). They have normal height and proportions. Neurological complications like entrapment of cranial nerves resulting in optical nerve atrophy, hearing loss, and facial palsy were reported in two individuals. A mild developmental delay was reported in three affected individuals. None of the patients have torus palatinus, increased rate of fractures, osteomyelitis, hepatosplenomegaly, or pancytopenia. A missense mutation 640G-->A (A214T) in the low-density lipoprotein receptor-related protein 5 (LRP5) gene was found in all affected individuals analyzed, including cases in whom craniosynostosis, a mild developmental delay, and/or macrocephaly is observed. To our knowledge, this is the first report in the literature of patients presenting with autosomal dominant osteosclerosis in whom a variable expression of craniosynostosis, macrocephaly, and mild developmental delay is observed, which is most likely associated with a mutation in the LRP5 gene. These phenotypes can therefore be added to the clinical spectrum of LRP5-associated bone disorders.

Adult↗

PubMed1998

Long-term outcome of children following maternal human parvovirus B19 infection.

OBJECTIVE: To determine the long-term outcomes of children exposed in utero to maternal parvovirus B19 infection. METHODS: All pregnant women with serologic evidence of recent parvovirus B19 infection and a comparison group with serologic evidence of past infection from January 1988 to December 1994 were sent questionnaires or contacted by phone about the health and development of their children. Information requested included: pregnancy complications, date of delivery, birth weight, sex, birth defects, need for special care, significant health problems, and developmental delays. All women had serology done at either the Centers for Disease Control and Prevention or the virology laboratory of the Connecticut Department of Health. The data were analyzed using descriptive statistics, chi2 analysis with Fisher exact test, or Student t test in appropriate cases. P < .05 was considered significant. RESULTS: Outcome information was obtained from 113 of 117 immunoglobulin-M positive women. The 113 respondents had 103 term singletons, two sets of twins (of which one neonate died of complications of prematurity), one hydropic stillborn, four spontaneous abortions, and one ectopic pregnancy. The mean gestational age at time of exposure was 15.6 weeks. The median age of the liveborn infants in study and comparison groups was 4 years. Eight of the 108 (7.3%) surviving children, one set of twins (exposed at 27 weeks), and six singletons (exposed at 7, 8, 9, 20, 27, and 35 weeks) had developmental delays in speech, language, information processing, and attention. Outcomes were obtained for 99 of 110 patients with past infection; they had 83 liveborn singletons, five sets of twins, two stillborns, and five spontaneous abortions. Seven of the 93 (7.5%) children had developmental delays, similar to the study group. Post-hoc power analysis revealed that 712 infected patients would be needed to find a twofold difference in the risk of abnormal neurologic development; our study had 30% power to find such a difference. CONCLUSION: There is no apparent increase in the frequency of developmental delays in children with exposure in utero to parvovirus, but larger studies are needed.

Adult↗

PubMed2001

Distal 5q deletion syndrome: phenotypic correlations.

We describe the phenotypes of two male sibs with partial monosomy of chromosome 5 [46,XY,der(5)inv ins(1;5)(p32;q35.4q34)]; maternally derived from a balanced insertion of 1 and 5 [inv ins (1;5)(p.32;q35.4q34)]. One sib had microcephaly, cleft lip and palate, facial anomalies, atrial (ASD) and ventricular (VSD) septal defects, camptodactyly 4th and 5th fingers, and developmental delay. The other sib showed microcephaly, facial anomalies, ASD, hypotonia, primary optic nerve hypoplasia, and developmental delay. Only seven other patients with 5q deletions distal to 5q33 have been reported and none showed the putative breakpoints identified in our two patients. All nine showed developmental delay or malformations of the CNS and facial anomalies; six of nine had defects of cardiac septation. Our two patients and one other were shown to have only one copy of the cardiac specific hCSX gene that defines in part the etiology of their ASD and VSD. The other components of their phenotypes cannot be related at present to genes identified in the deleted segments.

Abnormalities, Multiple↗

PubMed1984

Maternal responsivity in interactions with handicapped infants.

The present study investigated the influence of 3 infant characteristics on mothers' interactions with their handicapped young children. These 3 characteristics are chronological age, mental age, and handicapping condition. Maternal responsivity was hypothesized to increase with mental and chronological age and to be more closely linked to mental than chronological age. In addition, it was expected that handicapped group membership would be related to maternal behavior, but that many of these effects would be accounted for by mental age. 111 handicapped young children and their mothers were observed in a 15-min free-play session. The children ranged in age from 3 to 36 months of age and were classified as Down's syndrome (N = 56), developmentally delayed (N = 21), or cerebral palsied (N = 34). Maternal responsivity to their infants' behavior was explored for total behavior and for proximal and distal behaviors separately using proportion scores to control for overall levels of infant and maternal behavior exhibited. Infants but not mothers emitted more behavior in the free-play setting as the infants' mental and chronological age increased. As expected, mothers were more responsive proportionately to their infants' behavior as their children became more mature mentally and chronologically older, even after controlling for age-related increases in infant behavior. Since mental and chronological age were related, partial correlational analyses were performed. The age-related increases in maternal responsivity were accounted for by mental but not chronological age. Differences as a function of handicapped group membership also were found. Cerebral palsied infants exhibited less behavior than did the Down's syndrome and developmentally delayed infants. Mothers of developmentally delayed infants exhibited more responsive behavior proportionately than did mothers of the other 2 groups. However, this difference was due to the higher mental age of the infants.

Cerebral Palsy↗

PubMed1993

Neurodevelopmental testing of children born to human immunodeficiency virus type 1 seropositive and seronegative mothers: a prospective cohort study in Kigali, Rwanda.

OBJECTIVE: The results of developmental testing of 218 children born to human immunodeficiency virus (HIV)-seropositive mothers and infected or uninfected themselves were compared with those of 218 children born to HIV-seronegative mothers in an ongoing cohort study in Kigali, Rwanda. METHODS: When the children were 6, 12, 18, and 24 months of age, a specific neurodevelopmental examination was performed blindly by study physicians assessing gross motor development, fine motor development, language acquisition, and social contacts. RESULTS: Only one acute severe HIV-related encephalopathy was identified among the 50 infected children. The proportion of abnormal neurologic examinations in HIV-infected children varied from 15% to 40% according to age and was always higher than in HIV-uninfected children born to HIV-seropositive and seronegative mothers (< or = 5% or less of abnormal examinations at each time period). After excluding those children with clinical acquired immunodeficiency syndrome (AIDS) from the analysis, the proportion of abnormal examinations in infected children was 12.5% at 6 months, 16% at 12 months, 20% at 18 months, and 9% at 24 months of age and was still more frequent than in HIV-uninfected children. The developmental delay was principally due to significantly lower gross motor scores. CONCLUSIONS: HIV-1-infected children are more frequently developmentally delayed than uninfected children during the first 2 years of life in this African population. This developmental delay is related to the AIDS stage of pediatric HIV infection.

Child Development↗

PubMed2006

Life-history evolution in uncertain environments: bet hedging in time.

Many vertebrates, forest herbs, and trees exhibit both variable age at maturity and iteroparity as adaptations to uncertain environments. We analyze a stochastic model that combines these two life-history adaptations with density-dependent fertility. Results for a model with only iteroparity are consistent with previous work; environmental uncertainty favors adult survival over juvenile survival. This holds true even if there is a moderately strong convex trade-off between adult survival and fecundity, but the direction of selection can depend on which life-history trait is considered a random variable. A life history with only developmental delay favors juvenile survival in uncertain environments, consistent with previous models of seed banks. When both developmental delay and iteroparity are included in the model, both adaptations are favored in uncertain environments. Our simulations show that selection is not necessarily a runaway process in which either developmental delay or iteroparity is favored, as recently proposed by Tuljapurkar and Wiener, but rather that selection can favor both mechanisms. Invasion analysis shows that selective pressure on life-history delays increases as environmental variation increases. Reproductive delay and adult survival can be either adaptations or constraints. Natural-history studies that estimate model parameters can resolve this uncertainty.

Animals↗

PubMed2006

Intrauterine shunt for obstructive hydrocephalus--still not ready.

OBJECTIVE: To determine the safety and efficacy of ventriculoamniotic shunt placement through a hysterotomy in the second trimester of pregnancy as treatment for isolated obstructive hydrocephalus. METHODS: Between 1999 and 2003, four pregnancies with isolated fetal obstructive hydrocephalus in the second trimester were treated at Vanderbilt University Medical Center. Preoperatively, all fetuses underwent serial ultrasonographic examinations and an ultrafast magnetic resonance imaging to confirm isolated aqueductal stenosis. A normal fetal karyotype and negative polymerase chain reaction or culture of the amniotic fluid for cytomegalovirus and toxoplasmosis were obtained. Serial enlargement of the lateral ventricles >1.5 mm/week and fetal macrocephaly were documented. Using epidural and GETA, a standard ultrasmall ventricular catheter and valve were inserted via a hysterotomy. The distal catheter, rather than being inserted into the fetal peritoneum, exited between the fetal scapulae. Patients were discharged home from the hospital, and the remainder of their prenatal care was provided by their local obstetrician. After delivery, the distal drain was converted to a ventriculoperitoneal shunt. RESULTS: Cases were performed at 23 6/7, 25 5/7, 26 4/7, and 26 5/7 weeks. Shunts performed well during pregnancy, and were intact at delivery. Deliveries occurred at 34 1/7, 27 1/7, 28, and 32 4/7 weeks. Birthweights were 2,010, 907, 1,200, and 2,220 g. All Apgar scores were normal. Case 1 developed a neonatal shunt infection, and is now developmentally delayed, with swallowing dysfunction, hearing deficits and a poor pupillary response. Case 2 developed neonatal sepsis and is now developmentally delayed. Case 3 delivered preterm due to chorioamnionitis, and neonatal death occurred from sepsis. Case 4 is developmentally delayed. CONCLUSIONS: Ventriculoamniotic shunt can be placed through a hysterotomy, overcoming many of the technical difficulties of earlier percutaneous shunts. However, recent developments in fetal imaging and molecular genetics have not improved case selection. Unless new breakthroughs occur, fetal shunting cannot reasonably be expected to improve perinatal outcome.

Cerebrospinal Fluid Shunts↗

PubMed1995

[Growth and development of children with low birth weight at their first birthday].

The aim of this prospective study was to evaluate the effect of low birthweight on growth and development at one year of age, in a cohort of infants born between March 1992 and March 1993 at Hospital de Famalicão. Information was obtained from 199 children, 89 low birthweight cases and 110 born with a normal (> or = 2500 g) weight. The infant mortality rate (56 vs 9 per 1000), the frequency of growth (32% vs 4%, p = 0.0000003) or developmental delay (30% vs 11%, p = 0.002) were significantly higher in low birthweight babies. However, all cases of developmental delay corresponded to minor impairments. At age one, children born with a normal weight presented mean higher values for weight (10.0 +/- 1.1 kg vs 9.2 +/- 1.2 kg; p = 0.000005), length (74.2 +/- 7.1 cm vs 72.9 +/- 3.1 cm, p = 0.0006) and head circumference (46.4 +/- 1.9 cm vs 45.8 +/- 1.6 cm; p = 0.004). Prenatal characteristics such as the planning of the pregnancy, gestational birth weight, diseases during the pregnancy, gestational age or twining, significantly affected development at one year of age, showing that delays can be prevented before a child is born. In addition, post-natal exposures, such as home conditions, energy and nutrient intake, or coping with vaccination schedules and the occurrence of diseases during the neonatal and post-neonatal periods were significantly associated to developmental delay.(ABSTRACT TRUNCATED AT 250 WORDS)

Child Development↗

PubMed2007

Neuropsychological functioning of siblings of children with autism, siblings of children with developmental language delay, and siblings of children with mental retardation of unknown genetic etiology.

Neuropsychological functioning of 30 siblings of children with autism (AU-S), 28 siblings of children with mental retardation of (MR-S), and 30 siblings of children with developmental language delay (DLD-S) was compared. Two siblings, both AU-S, received diagnoses of pervasive developmental disorder (PDD). More siblings with cognitive disabilities were found in DLD-S than in AU-S. However, these differences disappeared after excluding diagnosed siblings or after accounting for family membership. In sum, despite the elevated incidence of PDD among AU-S, the neuropsychological functioning of the remaining siblings did not convey specific characteristics related to the genetic risk associated with autism, in contrast to the cognitive functioning of the DLD-S, which did reflect a genetic risk.

Adolescent↗

PubMed1987

Neurologic development of children with severe chronic renal failure from infancy.

A literature review was conducted to summarize current understanding of the effects of severe chronic renal failure (CRF), when present from infancy, on neurologic development. Data were obtained from the results of 95 examinations performed in 85 patients, most of whom had been studied after 12 months of age, or following initiation of maintenance dialysis or successful transplantation. CRF was diagnosed at birth or during the neonatal period in 71.7% of these patients; serum creatinine concentrations or calculated clearances were greater than or equal to 2.0 mg/dl (177 mumol/l) or less than 15 ml/min per 1.73 m2, respectively, in 75.8%. Head circumferences were greater than 2 standard deviations below the mean for age in 33 of 51 (64.7%) patients. Developmental delay was identified in 63.2% of all cases, and in 29 of 48 (60.4%), 16 of 19 (84.2%), and 4 of 13 (30.7%) patients studied while receiving conservative management or maintenance dialysis, or following successful transplantation, respectively. Moderate to severe delays were commoner for gross motor and language development. No significant relationships could be identified between age or severity of CRF at diagnosis and either the prevalence or severity of developmental delay. Other factors that may have contributed to observed developmental delays are also discussed, including aluminum loading, hyperparathyroidism, undernutrition, and psychosocial problems. New data are presented and discussed, and recommendations for future studies provided.

Adolescent↗

PubMed2004

Psychometric properties of the Sutter-Eyberg Student Behavior Inventory with rural middle school and high school children.

This study examined the psychometric properties of the Sutter-Eyberg Student Behavior Inventory (SESBI) in a rural sample of children and adolescents. Thirty-eight 5th- through 12th-grade teachers completed the SESBI on 726 children in their classrooms. High Cronbach's alphas supported the reliability of the SESBI scales in this population. Higher SESBI scores were obtained by boys than girls and by African American students than Caucasian students, more so at lower grades. Teacher's race did not affect SESBI scores. In contrast to children with developmental delay, children with learning disabilities obtained higher scores than others on the SESBI Intensity scale but not on the Problem scale. This suggests that teachers of children with learning disabilities recognize the higher frequency of problem behaviors in their students but do not consider these behaviors to be problems for themselves. On both SESBI scales, children with developmental delay were not distinguishable from peers without developmental delays.

Adolescent↗

PubMed2004

Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.

We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1. In comparing these patients to 60 previously reported individuals with 2q terminal deletions, certain physical abnormalities are loosely associated with positions of breakpoint. For example, facial features (e.g., prominent forehead, depressed nasal bridge, and dysmorphic ears and nose), short stature, and short hands and feet were frequent in patients with breakpoints at or proximal to 2q37.3. Reports of horseshoe kidney and Wilms tumor were limited to patients with a breakpoint at 2q37.1, and structural brain anomalies and tracheal anomalies were reported only in patients with breakpoints at or proximal to 2q37.1. Cleft palate was reported only in patients with the most proximal breakpoints (2q36 or 2q35). Neurological effects including developmental delay, mental retardation, autistic-like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein. Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling.

Abnormalities, Multiple↗

PubMed1989

Management of posthemorrhagic hydrocephalus in the low-birth-weight preterm neonate.

Over a period of 34 months from 1987 to 1990 we inserted ventricular catheter reservoirs (VCR) into 20 premature low-birth-weight infants who had developed progressive, symptomatic posthemorrhagic hydrocephalus following grade III or IV intraventricular hemorrhages. The mean estimated gestational age was 27.7 +/- 5.3 weeks and mean birth weight was 1,041 +/- 699 g. The ventricular catheter reservoirs were placed on day of life 30.7 +/- 29.7 and tapped for a total of 3-34 days at varying frequencies and for varying volumes. Of the 20 patients, 4 died on days of life 25, 76, 88, and 187. There were two reservoir infections, both occurring in infants who eventually died. The 16 survivors have been followed from 2 to 24 months (adjusted age). Four (25%) remain shunt-free and 3 have undergone VCR removal. There have been two shunt infections in the 12 shunted patients; ten shunt revisions have been performed overall. At the time of last follow-up, 14 patients were old enough to undergo neurodevelopmental evaluation. Five patients (36%) were 'normal' on gross neurological screening examination, 5 (36%) had 'mild developmental delay' and 4 (28%) had 'significant developmental delay'. We feel these data support the continued use of ventricular catheter reservoirs in the management of posthemorrhagic hydrocephalus and offer hope that some of these patients might remain shunt-free and most will have a normal or mildly delayed neurodevelopmental outcome.

Brain Damage, Chronic↗

PubMed2025

Genetic analysis of four cases of Poirier Bienvenu neurodevelopmental syndrome associated with CSNK2B variant.

BACKGROUND: CSNK2B deficiency underlies the pathogenesis of Poirier-Bienvenu neurodevelopmental syndrome (POBINDS). In this study, we present four cases of pediatric seizures caused by de novo variants in CSNK2B, with the aim to reinforce the clinical and variant data pertaining to early genetic factors associated with epilepsy. METHODS: Trio whole exome sequencing were used to detect variants in the proband and her family members, and bioinformatics annotation was performed for the variant. Sanger sequencing and CSNK2B cDNA sequencing were employed to ascertain the carrier status of additional family members and evaluate the potential impact of variants on splicing. RESULTS: All four cases presented with epilepsy as the initial manifestation, accompanied by global developmental delay, particularly in language and motor developmental delay. Cases 1, 3 and 4 exhibited full-scale tonic-clonic seizures, while case 2 displayed myoclonic and typical absence seizures. Furthermore, case 2 demonstrated delayed growth and development compared to age-matched peers. No abnormality was detected in the head magnetic resonance imaging (MRI). Genetic analysis revealed novel heterozygous variants in the CSNK2B gene in all four cases, including c.175 + 1G > A, c.73-2A > G, c.291 + 1G > A and c.481delA. In case 2, reverse transcription analysis of CSNK2B mRNA revealed the retention of the 3' end sequence of Intron 2 and deletion of the 5' end sequence of Exon 3. In treatment, four case received a combination of one to three types of antiseizure medication and rehabilitation training individually. Case 1 continued to experience seizures to varying degrees, while cases 2-4 demonstrated effective seizure control. Overall motor and intellectual development improved in all four cases, however, there was slow recovery in language function. CONCLUSION: This study elucidates the molecular etiology of epilepsy in four cases with POBINDS and expands the mutational spectrum of pathogenic variants in the CSNK2B, highlighting their impact on splicing. The highly genetic heterogeneous phenotype of POBINDS relies on the detection of pathogenic variants in CSNK2B. Conventional antiseizure medication effectively control seizures, while rehabilitation treatment can significantly improve intelligence and motor function to varying degrees; however, language recovery tends to be relatively slow.

Humans↗

PubMedDate not supplied

Nurses' utilization of parent questionnaires for developmental screening.

In the United States it is estimated that 16% of children are affected by developmental disabilities (American Academy of Pediatrics, 2001). Unfortunately, national statistics indicate that fewer than 30% of children with developmental or behavior problems are identified prior to entering kindergarten (Glascoe & Macias, 2003). Early Intervention studies and research on brain development have demonstrated the short and long-range benefits of early identification of developmental delays and intervention in the preschool years (Glascoe & Macias, 2003). During the past decade several studies have validated the use of parent questionnaires that screen for developmental delays. The nurse in a clinic, private office, or community health center should become familiar with the vast array of developmental screening tools. With this knowledge, the nurse can become the champion of change in selecting and incorporating the best tools for the systematic screening of children for developmental delay, as part of the well-child check-up.

Child, Preschool↗