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PubMed1984

Developmentally disabled infants can be hard to trace.

The purpose of this study was to determine how well the existing medical care system in a large geographic region communicates about and keeps track of the developmental problems of infants receiving tertiary inpatient care. Two hundred thirty-seven infants hospitalized in the first months of life were tracked, using a postal questionnaire at a mean age of 20 months. A discharge summary was present in 98 percent of charts, and a follow-up physician was identified in 95%. Questionnaires were returned by 116 physicians about 182 infants (77%). Seventy-one physicians had received a discharge summary. Current developmental information was obtained for 111 infants: 44 normal, 52 with known disabilities, and 15 with developmental delays. One hundred twenty-six infants could not be located at the time of the study. We conclude that many infants likely to have major disabilities are hard to track using simple retrospective techniques.

Continuity of Patient Care↗
PubMed2005

Not a new leukodystrophy but congenital cytomegalovirus infection.

We report a 16-month-old girl who presented with global developmental delay and hearing loss. Cranial magnetic resonance imaging demonstrated a pattern that could be interpreted as a "new leukoencephalopathy." Etiologic investigations revealed a positive polymerase chain reaction for cytomegalovirus DNA using her stored Guthrie card, indicating a congenital cytomegalovirus infection.

Brain Diseases, Metabolic↗
PubMed2006

A familial syndrome of unilateral polymicrogyria affecting the right hemisphere.

A number of familial syndromes of bilateral polymicrogyria (PMG) have been described, but reported unilateral PMG cases have generally been sporadic. The authors identified four families in which unilateral right-sided PMG on MRI was present in more than one individual, with pathologic confirmation in one. Core clinical features included contralateral hemiparesis, developmental delay, and focal seizures. The authors' findings suggest that unilateral PMG exists in a familial syndrome of probable germline genetic origin.

Adolescent↗
PubMed2000

Neurodevelopmental and functional outcomes of extremely low birth weight infants in the National Institute of Child Health and Human Development Neonatal Research Network, 1993-1994.

OBJECTIVES: The purposes of this study were to report the neurodevelopmental, neurosensory, and functional outcomes of 1151 extremely low birth weight (401-1000 g) survivors cared for in the 12 participating centers of the National Institute of Child Health and Human Development Neonatal Research Network, and to identify medical, social, and environmental factors associated with these outcomes. STUDY DESIGN: A multicenter cohort study in which surviving extremely low birth weight infants born in 1993 and 1994 underwent neurodevelopmental, neurosensory, and functional assessment at 18 to 22 months' corrected age. Data regarding pregnancy and neonatal outcome were collected prospectively. Socioeconomic status and a detailed interim medical history were obtained at the time of the assessment. Logistic regression models were used to identify maternal and neonatal risk factors for poor neurodevelopmental outcome. RESULTS: Of the 1480 infants alive at 18 months of age, 1151 (78%) were evaluated. Study characteristics included a mean birth weight of 796 +/- 135 g, mean gestation (best obstetric dates) 26 +/- 2 weeks, and 47% male. Birth weight distributions of infants included 15 infants at 401 to 500 g; 94 at 501 to 600 g; 208 at 601 to 700 g; 237 at 701 to 800 g; 290 at 801 to 900 g; and 307 at 901 to 1000 g. Twenty-five percent of the children had an abnormal neurologic examination, 37% had a Bayley II Mental Developmental Index <70, 29% had a Psychomotor Developmental Index <70, 9% had vision impairment, and 11% had hearing impairment. Neurologic, developmental, neurosensory, and functional morbidities increased with decreasing birth weight. Factors significantly associated with increased neurodevelopmental morbidity included chronic lung disease, grades 3 to 4 intraventricular hemorrhage/periventricular leukomalacia, steroids for chronic lung disease, necrotizing enterocolitis, and male gender. Factors significantly associated with decreased morbidity included increased birth weight, female gender, higher maternal education, and white race. CONCLUSION: ELBW infants are at significant risk of neurologic abnormalities, developmental delays, and functional delays at 18 to 22 months' corrected age.

Birth Weight↗
PubMed2006

Cochlear implants: cortical plasticity in congenital deprivation.

Congenital auditory deprivation (deafness) leads to a dysfunctional intrinsic cortical microcircuitry. This chapter reviews these deficits with a particular emphasis on layer-specific activity within the primary auditory cortex. Evidence for a delay in activation of supragranular layers and reduction in activity in infragranular layers is discussed. Such deficits indicate the incompetence of the primary auditory cortex to not only properly process thalamic input and generate output within the infragranular layers, but also incorporate top-down modulations from higher order auditory cortex into the processing within primary auditory cortex. Such deficits are the consequence of a misguided postnatal development. Maturation of primary auditory cortex in deaf animals shows evidence of a developmental delay and further alterations in gross synaptic currents, spread of activation, and morphology of local field potentials recorded at the cortical surface. Additionally, degenerative changes can be observed. When hearing is initiated early in life (e.g., by chronic cochlear-implant stimulation), many of these deficits are counterbalanced. However, plasticity of the auditory cortex decreases with increasing age, so that a sensitive period for plastic adaptation can be demonstrated within the second to sixth months of life in the deaf cat. Potential molecular mechanisms of the existence of sensitive period are discussed. Data from animal research may be compared to electroencephalographic data obtained from cochlear-implanted congenitally deaf children. After cochlear implantation in humans, three phases of plastic adaptation can be observed: a fast one, taking place within the first few weeks after implantation, showing no sensitive period; a slower one, taking place within the first months after implantation (a sensitive period up to 4 years of age); and possibly a third, and the longest one, related to increasing activation of higher order cortical areas.

Animals↗
PubMed2001

The care and health needs of children in residential care in the Maltese Islands.

OBJECTIVES: To survey the health needs of children in residential care in the Mediterranean Islands of Malta and Gozo. SETTING: Thirteen children's Residential Homes in the Maltese Islands. STUDY DESIGN: Cross-sectional interview survey. METHODS: Carers at the Residential Homes were interviewed using a semistructured questionnaire between June and November 1996. Data related to all the children resident in the homes at the time of the interview were collected including socio-demographic factors, reasons for admission to care, medical needs and medical services received. RESULTS: In all, 309 children, aged birth-16 years-equivalent to 4.2/1000 Maltese children-were in residential care at the time of the study. Fifty-three per cent were boys and 52% were < 8 years of age. The most common reasons for admission into residential care were single parenthood (25%), separated parents and parents unable to offer adequate care (19% each). Admission 'medicals' rarely included a developmental assessment or use of growth charts. Medical and developmental examinations were not carried out on a regular basis and children were medically examined only when required. Dental check-ups were performed more regularly; 30% of the children had a dental check-up every 6 months. Behavioural problems were common affecting 20.7% of all children, followed by chronic bronchial asthma which was present in 7.4%. Developmental delay (global or specific) was reported in 23.3% of children under the age of 4. CONCLUSIONS: Residential care is the predominant form of substitute care for disadvantaged children in Malta and Gozo. The demography of the child population in Residential Homes in these Islands is different from that in other countries, in that 52% of children in residential care are < 8 years of age compared to proportionately more adolescents in other countries. Medical supervision is minimal. A standardised medical and developmental assessment should be established as an essential part of this form of substitute care.

Adolescent↗
PubMed2004

Strategies for the early diagnosis of cerebral palsy.

Abstract Strategies for the early detection and diagnosis of cerebral palsy include multiple measures of the underlying brain abnormalities and their neurodevelopmental consequences. These measures can be grouped into the categories of pathogenesis, impairment, and functional limitation. Neuroimaging techniques are the most predictive measures of pathogenesis of cerebral palsy in both the preterm and term infant. Measures of neurological impairment focusing on muscle tone, reflexes, and other features of the neurological examination are poorly predictive in the first months of life. Detection of functional limitations manifested by motor developmental delay is sensitive and specific for later cerebral palsy, but not until well into the second 6 months of life. Abnormal spontaneous general movements in the infant 16 to 20 weeks postterm and earlier reflect functional limitations in the first months of life and have been shown to predict later cerebral palsy. Recognition of abnormal spontaneous general movements may improve early detection and diagnosis of cerebral palsy if these techniques can be successfully incorporated into organized follow-up programs and developmental surveillance.

Activities of Daily Living↗
PubMed2003

Long-term follow-up of 114 patients with congenital hyperinsulinism.

BACKGROUND: The term congenital hyperinsulinism (CHI) comprises a group of different genetic disorders with the common finding of recurrent episodes of hyperinsulinemic hypoglycemia. OBJECTIVE: To evaluate the clinical presentation, diagnostic criteria, treatment and long-term follow-up in a large cohort of CHI patients. PATIENTS: The data from 114 patients from different hospitals were obtained by a detailed questionnaire. Patients presented neonatally (65%), during infancy (28%) or during childhood (7%). RESULTS: In 20 of 74 (27%) patients with neonatal onset birth weight was greatly increased (group with standard deviation scores (SDS) >2.0) with a mean SDS of 3.2. Twenty-nine percent of neonatal-onset vs 69% of infancy/childhood-onset patients responded to diazoxide and diet or to a carbohydrate-enriched diet alone. Therefore, we observed a high rate of pancreatic surgery performed in the neonatal-onset group (70%) compared with the infancy/childhood-onset group (28%). Partial (3%), subtotal (37%) or near total (15%) pancreatectomy was performed. After pancreatic surgery there appeared a high risk of persistent hypoglycemia (40%). Immediately post-surgery or with a latency of several Years insulin-dependent diabetes mellitus was observed in operated patients (27%). General outcome was poor with a high degree of psychomotor or mental retardation (44%) or epilepsy (25%). An unfavorable outcome correlated with infancy-onset manifestation (chi(2)=6.1, P=0.01). CONCLUSIONS: The high degree of developmental delay, in particular in infancy-onset patients emphasizes the need for a change in treatment strategies to improve the unfavorable outcome. Evaluation of treatment alternatives should take the high risk of developing diabetes mellitus into account.

Adolescent↗
PubMedDate not supplied

Epidemiology of childhood behavioural disorders in Ilorin, Nigeria--findings from parental reports.

We report the findings of a survey aimed at determining the prevalence, pattern and psychosocial correlates of childhood psychiatric disorders among primary school pupils in Ilorin, Kwara State. Eight hundred and forty-six parents completed the 31-item Rutter scale A2 and an additional pro-forma on the developmental and family history of their children. The most commonly reported symptoms were headache, vomiting, tempertantrums, restlessness, disobedience and fearfulness. Using Rutter's cut off point of 13, 157 (18.6%) qualified as cases: neurotic disorders (7.3%), antisocial disorders (8%) and undifferentiated disorders (3.3%). Males were over-represented, albeit non-significantly, among the neurotic and antisocial groups. Mothers of high scorers (HSs) reported significantly more physical and emotional problems during pregnancy. HSs were significantly more likely to (i) have had delayed developmental milestones (ii) have suffered a major illness during childhood (iii) come from broken homes, and (iv) attend school located in the rural area. Our prevalence rate compares well with those reported in Africa and elsewhere. To address the identified unmet needs of children in this environment, we suggest the need to establish a comprehensive child mental health package, which could be incorporated into the existing primary health care programme. The package should encompass the three tiers of prevention, and involve the active participation of parents, teachers, educational, as well as health professionals.

Adolescent↗
PubMed1989

[Cerebellar ataxia of early onset: clinical symptoms and MRI findings].

Eight cases of childhood cerebellar ataxia were reported. All these cases showed chronic cerebellar ataxia with early onset, and the other diseases of cerebellum such as infections, neoplasms and storage diseases were excluded by clinical symptoms and laboratory findings including blood counts, blood chemistry, lactate, pyruvate, ceruloplasmin, urinalysis, serum immunoglobulins, amino acid analysis in blood and urine, CSF analysis, leukocyte lysosomal enzymes, MCV, EMG, EEG and brain X-CT. Two pairs of siblings were included in this study. The clinical diagnosis were cerebellar type (5), spinocerebellar type (1), one Marinesco-Sjögren syndrome and undetermined type (1). The age of onset was 1 to 5 years. The chief complaint was motor developmental delay in 6 cases; among them 5 patients could walk alone at the ages of 2 to 3 years'. Mental retardation was observed in 7 cases and epilepsy in 2. TRH was effective in 5 cases. The MRI study revealed that the area of medial sagittal slice of the cerebellum was reduced significantly in all cases and also that of pons was reduced in 5 cases. Different from typical adult onset spinocerebellar degenerations, most of the present cases have achieved slow developmental milestones and the clinical course was not progressive. Genetic factors are suspected in the pathogenesis of this disease in some cases.

Adolescent↗
PubMed1981

Early development of infants of birth weight less than 1,000 grams with reference to mechanical ventilation in newborn period.

Growth, development, and neurologic status were assessed at 1 year of age in 38 infants of birth weight less than 1,000 gm who were born in 1976 through 1978. Twenty had received mechanical ventilation as newborns, and this group had a significantly higher incidence of respiratory distress syndrome, seizures, cardiac arrest, bronchopulmonary dysplasia, and retrolental fibroplasia than those not ventilated. The ventilated infants had a high incidence (70%) of bronchopulmonary dysplasia and of retrolental fibroplasia (20% grade III or IV). Seven of eight infants with severe developmental delay (greater than 2 SD), six of nine with moderate delay (greater than 1 SD), and seven of eight with neurologic disability had received ventilation. There was no difference in growth between the ventilated and nonventilated children. Of the total group, 53% showed no problems.

Bronchopulmonary Dysplasia↗
PubMedDate not supplied

Iminoglycinuria: a benign type of inherited aminoaciduria.

The diagnosis of iminoglycinuria was established in two patients on the basis of increased urinary excretion of proline, hydroxyproline and glycine in the presence of normal plasma concentrations of these respective compounds. Routine metabolic screening was performed in these infants in order to find the cause for the developmental delay observed in one infant and the siblings deaths noted in the family of the other. These two patients gave further support to the previous suggestion that renal iminoglycinuria is a benign disorder with no recognizable clinical pattern. Its detection, therefore, requires screening programs or amino acid studies.

Developmental Disabilities↗
PubMed2005

Maternal phenylketonuria: report from the United Kingdom Registry 1978-97.

BACKGROUND: The effects of maternal phenylalanine on the fetus include facial dysmorphism, microcephaly, intrauterine growth retardation, developmental delay, and congenital heart disease. AIMS: To evaluate the impact of phenylalanine restricted diet in pregnant women with phenylketonuria (PKU) on their offspring. METHODS: Data on virtually all pregnancies of women with PKU in the United Kingdom between 1978 and 1997 were reported to the United Kingdom PKU Registry. The effect of the use and timing in relation to pregnancy of a phenylalanine restricted diet on birth weight, birth head circumference, the presence or absence of congenital heart disease (CHD), 4 year developmental quotient, and 8 year intelligence quotient were examined. RESULTS: A total of 228 pregnancies resulted in live births (seven twin pregnancies were excluded). In 110 (50%), diet started before conception. For this group mean (SD) birth weight was 3160 (612) g, birth head circumference 33.6 (1.9) cm, 4 year DQ 108.9 (13.2), 8 year IQ 103.4 (15.6), and incidence of CHD was 2.4%. In comparison, for those born where treatment was started during pregnancy (n = 91), birth weight was 2818 (711) g, birth head circumference 32.7 (2.0) cm, 4 year DQ 96.8 (15.0), 8 year IQ 86.5 (13.0), and incidence of CHD was 17%. Month-by-month regression analyses suggested that metabolic control by 12-16 weeks gestation had most influence on outcome. CONCLUSIONS: Many features of the maternal PKU syndrome are preventable by starting a phenylalanine restricted diet. Women with PKU and their carers must be aware of the risks and should start the diet before conception, or as soon after as possible.

Analysis of Variance↗
PubMed1990

Health of homeless children and housed, poor children.

Homeless children in families are increasing in numbers across the country and have been noted to have frequent health problems. The health status of homeless children was assessed on multiple dimensions through parental report in a survey conducted with 196 homeless families in 10 shelters in Los Angeles and 194 housed poor families after March 1987 through January 1988. During the month before the survey, the homeless and housed poor children experienced high rates of illness symptoms, disability, and bed days. Homeless and housed poor children were frequently rated by their parents to be in fair or poor health (17% vs 13%, P = .14). Homeless children, however, were reported to have more behavior problems and school failure [30% vs 18%, P = .06] than housed poor children. Homeless children also had high rates of other health problems such as developmental delay (9%) and overweight (13%). The diets of homeless children were frequently imbalanced, dependent on food from "fast-food" restaurants, and characterized by repeated periods of deprivation. Family problems were more common among homeless families, especially among single-parent homeless families compared with single-parent housed families (spousal abuse, 68% vs 41%, P less than .01; parental drug and alcohol abuse, 60% vs 39%, P less than .01). It is concluded that homeless children have significant child behavior and developmental problems and disorders of nutrition and growth, which are associated with multiple risk factors in their environment.

Child↗
PubMed1982

Neonatal hyperviscosity. II. Effect of partial plasma exchange transfusion.

To determine the effect of partial plasma exchange transfusion, 20 newborn infants with neonatal hyperviscosity were randomly assigned to observation or treatment with partial plasma exchange transfusion within the first eight hours after birth. They were studied for organ involvement by roentgenogram, blood count, coagulation studies, and neurologic behavior and were followed up using the Brazelton Neonatal Behavior Assessment scale at 8, 24, and 72 hours and 2 weeks of age; in addition, ten control infants without hyperviscosity of similar birth weights and gestational ages were also studied. Exchange transfusion improved blood viscosity but both hyperviscous groups showed a higher proportion of abnormal results than did the control subjects. Infants receiving exchange transfusions subsequently improved during the period from 8 hours to 2 to 3 weeks of age, until they were indistinguishable from the control subjects. Neurologic improvement in hyperviscous infants who had not received exchange transfusions were significantly slower during this period. At 8 months of age, abnormal neurologic and developmental findings were impressive in both groups; no significant differences in neurologic abnormalities were noted at that time. Developmental delays, tremors, spastic diplegia, and monoparesis were found in four of six untreated infants and five of ten infants who had received exchange transfusions. A fine tremor was present in one control child.

Blood Viscosity↗
PubMed2002

[Two cases of congenital toxoplasmosis with a central nervous system damage--delayed diagnosis].

OBJECTIVES: The intrauterine toxoplasma gondii infection is linked with a high risk of central nervous system/CNS/damage in the fetus. Why, despite the wide knowledge of this neurodegenerative disease prophylaxis and therapy, do we still meet neonates with the CNS damage? DESIGN, MATERIALS AND METHODS: Authors present two cases of congenital toxoplasmosis with the CNS involvement. RESULTS: One of the cases was identified as the internal hydrocephalus during a prenatal ultrasound examination but no further diagnostics tests were undertaken. The congenital toxoplasmosis and severe CNS damage was diagnosed post delivery. In the other case some clinical symptoms of the CNS infection appeared in the neonatal period. Now this patient is eight months old and presenting mild motor developmental delays. CONCLUSIONS: 1. There are many clinical symptoms of the congenital toxoplasmosis, that can occur in the prenatal/case 1/and postnatal/case 2/period. 2. No serologic tests for toxoplasmosis were performed in mothers during pregnancy, what delays treatment and diagnosis of sick children. 3. Fetus presenting the CNS anomalies identified during ultrasound examinations should be immediately diagnosed.

Female↗
PubMed2004

Childrearing practices and developmental expectations for Mexican-American mothers and the developmental status of their infants.

BACKGROUND AND PURPOSE: The impact of parent education programs on early intervention programs is not thought to be uniform among children from majority and minority populations. This study examined the relationship between maternal childrearing practices and behaviors and the developmental status of Mexican-American infants. SUBJECTS: Participants were 62 Mexican-American mother-infant pairs. The infants' mean adjusted age was 12 months (SD=1.7, range=9-14). A third of the children were diagnosed with developmental delays and referred for early intervention by physicians or therapists when the children received their medical follow-up. The group was stratified according to socioeconomic status and acculturation using the Bidimensional Acculturation Scale for Hispanics. This scale uses cutoff points to classify individuals into 3 levels of acculturation. METHODS: Information on childrearing practices and behaviors was gathered using the Parent Behavior Checklist (PBC), the Home Observation for Measurement of the Environment (HOME) Inventory, and the Nursing Child Assessment Teaching Scale (NCATS). Infants' developmental status was assessed by use of the Bayley Scales of Infant Development II (BSID II). The Pearson product moment correlation, partial correlations, Fisher z transformation, and multiple regression analyses were used to examine the relationship between childrearing practices and parenting behaviors, demographic factors, and infants' developmental status. RESULTS: Maternal nurturing behaviors, parent-child interaction, and quality of the home environment were positively correlated with the infants' cognitive development. Maternal years of education modified the observed relationship between PBC and BSID II scores but not the observed relationship between HOME Inventory and NCATS scores. The childrearing practices, maternal socioeconomic status (SES) and age, and infants' gestational age at birth (GA) explained 45% of the variance in infants' cognitive scores. The infants' GA, maternal SES and age, and NCATS scores accounted for 32% of the motor scores on the BSID II. DISCUSSION AND CONCLUSION: The findings partially support a link between aspects of the mothers' childrearing behaviors and their infants' cognitive developmental status. For motor developmental status, the association appeared stronger with the infants' characteristics than with maternal childrearing practices and behaviors tested in this study.

Acculturation↗
PubMed1991

Psychosocial aspects of AIDS in children and adolescents.

The first part of this article addresses the neuropsychiatric aspects of human immunodeficiency virus (HIV) infection in children and adolescents, including developmental delay, depression, and dementia. The specific clinical issues of disclosure of diagnosis and discussion of death with a child are examined. The second part presents aspects of the impact of AIDS on families, approaches to HIV antibody testing, and therapeutic interventions for the family.

AIDS Dementia Complex↗