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PubMed2002

Early developmental outcomes after newborn encephalopathy.

OBJECTIVE: The aim of this study was to ascertain the early developmental status of children who have a history of newborn encephalopathy. METHODS: A longitudinal follow-up was conducted of a population-based, case-control study of children born in Western Australia between June 1993 and December 1996. The study included 276 term children (>/=37 weeks' gestation) with moderate or severe newborn encephalopathy and 564 unmatched term control subjects. The Griffiths Mental Development Scales was used to ascertain developmental status and a General Quotient (GQ) score. Outcome measures were the Griffiths developmental subscales, GQ, diagnosis of cerebral palsy, and mortality. RESULTS: Thirty-four patients and 1 control subject died before reaching assessment. Between June 1994 and December 1999, 195 (81%) eligible patients and 445 (79%) eligible control subjects were assessed. Statistically significant differences were found between patients and control subjects for GQ and all developmental subscales. Overall, 39% of patients had a poor outcome as defined by death, cerebral palsy, or a significant degree of developmental delay, compared with 2.7% of control subjects. Furthermore, 62% of those with severe encephalopathy had a poor outcome compared with 25% of those with moderate encephalopathy. Patients with a history of seizures were 3 times more likely to develop cerebral palsy than patients without. Overall, 28 (10.1%) of patients have cerebral palsy. CONCLUSIONS: These data provide important prognostic information regarding survival and serious disability and indicate that newborn encephalopathy places children at significant risk of developmental delay by their second year. These findings also suggest that comprehensive clinical and educational assessments are required to enable appropriate educational provisions as these infants approach school entry.

Australia↗

PubMed2001

Münchhausen by proxy syndrome in clinical child neuropsychology: a case presenting with neuropsychological symptoms.

Münchhausen by proxy syndrome (MBPS) is a rare but dramatic variant of child abuse. In MBPS adults, mostly the mother, invent, manipulate, or produce the child's illness, and as a consequence the child has to undergo numerous diagnostic or treatment procedures. Typically, valid information about the etiology of the child's illness is withheld by the parents, and reversible symptoms vanish, when the child and the responsible adults are separated. Although valid statistical data about the epidemiology of MBPS are not available, MBPS should be considered more often than normally recognized. Neurological and neuropsychological presentations including developmental delays and learning problems appear to be common among MBPS cases so that clinical child neuropsychologists should be aware of this problem and consider MBPS at least in some of the mysterious cases that come to their attention. The present study describes a case of MBPS in which neurological and neuropsychological symptoms predominate. It presents a MBPS variant that is characterized by developmental delays and learning problems induced by unnecessary isolation at home, hospitalization, and treatment procedures. In the present case MBPS was at first suspected following neuropsychological assessment, since some of the main features of non-authenticity of symptom presentation gave cause for suspecting deceptive behavior on the mother's (and possibly also on the maternal grandmother's) side.

Adult↗

PubMed2006

The identification of a recurrent phosphoglycerate kinase mutation associated with chronic haemolytic anaemia and neurological dysfunction in a family from USA.

Phosphoglycerate kinase (PGK) deficiency is a rare X-linked disease that is characterised by mild to severe haemolytic anaemia, rhabdomyolysis, and variable defects in the central nervous system. In a white American family, two sons presented with haemolytic anaemia, seizures, and developmental delay. The diagnosis of PGK deficiency was made based on the remarkably low (<5% of normal) erythrocyte PGK enzyme activity level and the identification of a missense (c. 491A --> T) PGK1 gene mutation. This mutation results in an Asp164Val amino acid substitution, which has previously been designated PGK-Amiens and PGK-New York. The two new patients have the full clinical syndrome of PGK deficiency including haemolytic anaemia, developmental delay and seizures, and in the proband, hemiplegic migraines, retinal dystrophy and muscle fatigue. The PGK-Amiens/New York mutation had previously been found in a French patient and also in a large Chinese-Australian kindred, indicating that either the c. 91A --> T mutation is a recurrent mutation or that there is shared ancestry between the patients that have been identified so far with the mutation. Haplotype analysis of the c. 91A --> T mutation indicated that this was a recurrent mutation.

Anemia, Hemolytic↗

PubMed2002

The effects of alcohol and illicit drugs on the human embryo and fetus.

Women at childbearing age often use alcohol and various illicit drugs such as cocaine and heroin. These agents pass through the human placenta and may affect the developing embryo and fetus. Indeed, large amounts of alcohol ingested by the pregnant woman may produce a specific syndrome manifested by prenatal and postnatal growth retardation, a variety of facial dysmorphic features and mental retardation. Ingestion of smaller amounts of alcohol will produce the fetal alcohol effects with only few and minor dysmorphic features but with developmental delay and some degree of intellectual impairment. Cocaine use during pregnancy may apparently result in an increase in the rate of congenital anomalies, of stillbirth and of intrauterine growth retardation. The use of heroin and opiates does not seem to increase the rate of major congenital anomalies, but it reduces fetal growth and increases the rate of intrauterine fetal death. Studies on the developmental outcome of children born to cocaine or heroin dependent mothers seem all to show psychomotor developmental delay at a young age. At school age these children have intellectual impairment and a very high rate of inattention and/or hyperactivity. We should therefore address our efforts in improving the environment of these children and in treating the early symptoms of inattention and hyperactivity, even before the child reaches school.

Alcoholism↗

PubMed2006

Do antireflux operations decrease the rate of reflux-related hospitalizations in children?

OBJECTIVE: Gastroesophageal reflux disease is extremely common in the pediatric population, and antireflux procedures are performed with increasing frequency. The objective of this study was to determine whether pediatric antireflux procedures are associated with a decreased rate of reflux-related hospitalizations. METHODS: A study was conducted of pediatric patients who were undergoing antireflux procedures using data that were derived from the Washington State Comprehensive Hospital Abstract Reporting System and Vital Records. Patients were identified by a search of all records (1987-2001) for procedure codes that pertained to antireflux procedures in patients who were younger than 19 years. The number of hospitalizations for and rates of reflux-related events per patient-year before and after an antireflux procedure was calculated, and factors that were associated with higher antireflux procedure rates were examined. RESULTS: A total of 1142 patients underwent antireflux procedures. The rate of reflux-related events declined sharply with age both before and after an antireflux procedure. The cohort was divided into 3 groups on the basis of age at first antireflux procedure (<1 year, 1-3 years, or 4-19 years), and the calculations of incidence rate ratios before to after an antireflux procedure were done within the same age strata. Results suggest an overall benefit of antireflux procedures in young children. For antireflux procedures that were performed in children who were older than 4 years, the benefit is less clear. Developmental delay was significantly associated with higher rates of reflux-related events among patients who underwent an antireflux procedure after age 4. CONCLUSIONS: The rate of reflux-related events was lower after an antireflux operation for children who underwent an antireflux procedure before age 4. Older children, however, were hospitalized at equal rates before and after an antireflux procedure, and older children with developmental delay were hospitalized at greater rates after an antireflux procedure. These findings highlight the need to clarify the subjective and objective indications for antireflux procedures in infants and children.

Adolescent↗

PubMed2000

[Phacomatoses: structural substare of epilepsy].

AIM: Evaluation of frequency and characteristics of seizures in the most frequent phacomatoses and assessment of relationship between fits and structural changes in CNS. MATERIAL AND METHODS: 135 children with tuberous sclerosis (TS), 73 with NF-1 and 30 with Sturge-Weber syndrome took part in the study. Except for careful anamnesis in all patients with fits were done brain CT or MR studies. RESULTS: Seizures were reported in 128 of 135 (95%) patients with TS, usually, between 3rd and 6th month of life. Their early presentation was related to developmental delay. Cortical and subcortical lesions detected in neuroimaging studies were responsible for drug-resistant epilepsy in the children. 13 of 73 (18%) children with NF-1 had seizures. In 9 of them CNS lesions were detected on neuroimaging. In Sturge-Weber syndrome inherited meningo-encephalic lesions correlated with hemilateral seizures, even in first months of life. Most children did not show apparent developmental delay. CONCLUSIONS: Epileptic seizures in phacomatoses had their own specificity. They were correlated with structural lesions in CNS.

Brain↗

PubMed2004

Range of neurologic disorders in patients with celiac disease.

OBJECTIVE: During the past 2 decades, celiac disease (CD) has been recognized as a multisystem autoimmune disorder. A growing body of distinct neurologic conditions such as cerebellar ataxia, epilepsy, myoclonic ataxia, chronic neuropathies, and dementia have been reported, mainly in middle-aged adults. There still are insufficient data on the association of CD with various neurologic disorders in children, adolescents, and young adults, including more common and "soft" neurologic conditions, such as headache, learning disorders, attention-deficit/hyperactivity disorder (ADHD), and tic disorders. The aim of the present study is to look for a broader spectrum of neurologic disorders in CD patients, most of them children or young adults. METHODS: Patients with CD were asked to fill in a questionnaire regarding the presence of neurologic disorders or symptoms. Their medical charts were reviewed, and those who were reported as having neurologic manifestations underwent neurologic examination and brain imaging or electroencephalogram if required. Their neurologic data were compared with that of a control group matched for age and gender. RESULTS: Patients with CD were more prone to develop neurologic disorders (51.4%) in comparison with control subjects (19.9%). These disorders include hypotonia, developmental delay, learning disorders and ADHD, headache, and cerebellar ataxia. Epileptic disorders were only marginally more common in CD. In contrast, no difference was found in the prevalence of tic disorders in both groups. Therapeutic benefit, with gluten-free diet, was demonstrated only in patients with transient infantile hypotonia and migraine headache. CONCLUSION: This study suggests that the variability of neurologic disorders that occur in CD is broader than previously reported and includes "softer" and more common neurologic disorders, such as chronic headache, developmental delay, hypotonia, and learning disorders or ADHD. Future longitudinal prospective studies might better define the full range of these neurologic disorders and their clinical response to a gluten-free diet.

Adolescent↗

PubMed2005

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6p25 microdeletion syndrome.

Deletion of distal 6p is associated with a distinctive clinical phenotype including Axenfeld-Rieger malformation, hearing loss, congenital heart disease, dental anomalies, developmental delay, and a characteristic facial appearance. We report the case of a child where recognition of the specific ocular and facial phenotype, led to identification of a 6p microdeletion arising from a de novo 6:18 translocation. Detailed analysis confirmed deletion of the FOXC1 forkhead gene cluster at 6p25. CNS anomalies included hydrocephalus and hypoplasia of the cerebellum, brainstem, and corpus callosum with mild to moderate developmental delay. Unlike previous reports, hearing was normal.

Abnormalities, Multiple↗

PubMed1981

An early intervention program for high-risk children in a health care setting.

Early intervention programs are designed to provide detection, treatment, and prevention of handicaps, developmental delays, and environmental deprivation as early in a child's life as possible. Health care facilities, especially community health centers, are in a unique position to provide intervention services. The social work and nursing staffs of the Dimock Community Health Center in Roxbury, Massachusetts designed an early intervention program (P.E.C.S.--Parent Education and Child Stimulation) for high-risk families. The program addresses the effects of developmental delays and environmental deprivation prevalent in the birth to three-year-old population of the Center. This paper describes the organization and methodology of the program and indicates ways in which the program can be replicated.

Boston↗

PubMed1988

The evolution and outcome of cavitating periventricular leukomalacia in infancy. A study of 46 cases.

Forty six infants with the ultrasonic diagnosis of cavitating periventricular leukomalacia (CPVL) have been reviewed. Follow up examination results allow correlation between the ultrasound appearances and subsequent neurodevelopmental and neurological deficits. The highest incidence of this condition was found in infants at and below 27 weeks gestation, and occurred in 15% of very premature infants surviving 14 days or more. Cavities developed 15 days after the onset of periventricular echodensity (median time). Ventricular dilatation occurred in 24% of the infants who developed cavities. Follow up information was available in 27 infants and 18 of these (67%) had significant neurodevelopmental handicap. The location of echolucent cavities were described as involving anterior, middle or posterior cerebral zones or any combination of these. Cerebral palsy was closely related to the presence of cavities, but there was little association between cavities and developmental delay. Four factors were found to predict cerebral palsy: cavities within the occipital zone, the involvement of multiple regions of the brain, lesions greater than 1 cm in diameter and cavities associated with subcortical leukomalacia. Lesions confined to the anterior or middle zones were unlikely to be associated with significant handicap. The presence of cavities per se was not associated with a higher incidence of severe developmental delay.

Cerebral Palsy↗

PubMed2006

Speech and language impairment and oromotor dyspraxia due to deletion of 7q31 that involves FOXP2.

We report detailed clinical, cytogenetic, and molecular findings in a girl with a deletion of chromosome 7q31-q32. This child has a severe communication disorder with evidence of oromotor dyspraxia, dysmorphic features, and mild developmental delay. She is unable to cough, sneeze, or laugh spontaneously. Her deletion is on the paternally inherited chromosome and includes the FOXP2 gene, which has recently been associated with speech and language impairment and a similar form of oromotor dyspraxia in at least three other published cases. We hypothesize that our patient's communication disorder and oromotor deficiency are due to haploinsufficiency for FOXP2 and that her dysmorphism and developmental delay are a consequence of the absence of the other genes involved in the microdeletion. We propose that this patient, together with others reported in the literature, may define a new contiguous gene deletion syndrome encompassing the 7q31-FOXP2 region. Cytogenetic and molecular analysis of this region should be considered for other individuals displaying similar characteristics.

Abnormalities, Multiple↗

PubMed2004

A comparison of pregnancies that occur before and after the onset of chronic fatigue syndrome.

BACKGROUND: Many women with chronic fatigue syndrome (CFS) fear that pregnancy will worsen their condition, increase the risks of maternal complications of pregnancy, or threaten the health of their offspring. Little empirical evidence, however, has been published on this matter. METHODS: A detailed questionnaire was administered to 86 women regarding 252 pregnancies that occurred before or after the onset of CFS and the outcomes of these pregnancies were observed. RESULTS: During pregnancy, there was no change in CFS symptoms in 29 (41%), an improvement of symptoms in 21 (30%), and a worsening of symptoms in 20 (29%) of 70 subjects. After pregnancy, there was no change in CFS symptoms in 21 (30%), an improvement of symptoms in 14 (20%), and a worsening of symptoms in 35 (20%) of the subjects. The rates of many complications were similar in pregnancies occurring before the onset and in those occurring after the onset of CFS. There was a higher frequency of spontaneous abortions in the pregnancies occurring after, vs before, the onset of CFS (22 [30%] of 73 pregnancies after vs 13 [8%] of 171 before; P<.001), but no differences in the rates of other complications. Developmental delays or learning disabilities were reported more often in the offspring of women who became pregnant after, vs before, the onset of CFS (9 [21%] of 43 children vs 11 [8%] of 139 children; P =.01). CONCLUSIONS: Pregnancy did not consistently worsen the symptoms of CFS. Most maternal and infant outcomes were not systematically worse in pregnancies occurring after the onset of CFS. The higher rates of spontaneous abortions and of developmental delays in offspring that we observed could be explained by maternal age or parity differences, and should be investigated by larger, prospective studies with control populations.

Adult↗

PubMed2004

Regression and word loss in autistic spectrum disorders.

BACKGROUND: For many years, researchers and clinicians have described parent reports of an unusual developmental phenomenon in a substantial minority of children with Autistic Spectrum Disorders (ASD), the acquisition and then loss of communication skills during the second year of life. METHODS: As part of a longitudinal study of 110 children referred for assessments of possible autism at age 2 years or younger, 21 developmentally delayed children and 33 typically developing controls, 19 children were described by their parents at age 2 as having gained and lost spontaneous, meaningful words, and 12 children as having a history of less specific loss of imitated words or nonword vocalizations. A battery of diagnostic and cognitive tasks was administered to all children at study entrance, at ages 3 (for the referral children only) and 4 or 5 (for referral and developmentally delayed children). RESULTS: Results indicated that the acquisition of a small number of spontaneous words used meaningfully and consistently followed by loss of all words, often associated with other social changes, was unique to children diagnosed at 5 years with ASD. Few differences, besides those that defined the pattern of word loss, emerged between children with ASD with and without word loss. Loss of less specific, nonword vocalizations was associated with cognitive delay, with or without autism. CONCLUSIONS: Word loss is a reliably identifiable phenomenon in early childhood that appears to be unique, but not universal to, ASD. Histories and outcome of children with word loss were not in keeping with a sudden change from normal to abnormal functioning, but did suggest that this type of loss in the second year of life may be a useful 'red flag' for ASD in a significant minority of cases.

Autistic Disorder↗

PubMed1982

Infants born before 29 weeks gestation: survival and morbidity at 2 years of age.

In a collaborative study involving two hospitals with large maternity services, 166 liveborn infants of gestational age from 24 to 28 weeks were born in the calendar years 1977 and 1978. Of these infants, 75 (45.2%) died either in hospital or after discharge home. At the age of 2 years, 16 (9.6%) of the cohort had a major handicap [cerebral palsy, Mental Developmental Index (MDI) under 69, deafness or blindness]. An additional 20 children (12.0%) had significant developmental delay (MDI 69 to 84, -2 to -1 SD below mean) and 53 (31.9%) were considered to be free of these handicaps. Psychological assessments were not performed on two survivors (1.2%) but reliable reports indicated that they were free of major handicaps. Long-term survival increased in a stepwise fashion from 9.1% at 24 weeks to 68.5% at 28 weeks gestation, and there was a trend for major handicap and significant developmental delay to decrease in incidence with increasing maturity. Of the 58 children who had presented by the vertex 42 (72.4%) were free of significant handicap; however, of the 31 children in whom there had been either a breech presentation or a transverse lie, only 11 (35.5%) were free of significant handicap (chi 2 = 9.69, P less than 0.01). The mode of delivery (vaginal or caesarean section) did not significantly affect the handicap rate in the survivors.

Australia↗

PubMed1998

Surviving social assistance: 12-month prevalence of depression in sole-support parents receiving social assistance.

BACKGROUND: Although it is generally recognized that poverty and depression can coexist among single parents receiving social assistance, there is insufficient research on this topic. The goals of this study therefore were to investigate the prevalence, correlates and health care expenditures associated with depression among sole-support parents receiving social assistance. METHODS: Sole-support parents who had applied for social assistance in 2 regions of southwestern Ontario were included in the study. Depression was diagnosed with the 1994 University of Michigan Composite International Diagnostic Interview short forms. RESULTS: The 12-month prevalence rate of depressive disorder among the parents interviewed was 45.4% (345/760). A total of 247 (32.5%) had major depressive disorder alone, 19 (2.5%) had dysthymia, and 79 (10.4%) had both major depressive disorder and dysthymia ("double depression"). Those with major depressive disorder, particularly double depression, had significantly higher rates of coexisting psychiatric disorder than those without depressive disorders. Parents with depression reported higher rates of developmental delay and behaviour problems in their children than parents without depression. Expenditures for health care services were higher for parents with depression and for their children than for parents without depressive disorder and their children. INTERPRETATION: Single parents receiving social assistance have high rates of depression. Such parents with depression also have higher rates of other psychiatric disorders and higher expenditures for health care services, and their children have higher rates of developmental delay and behaviour problems.

Adaptation, Psychological↗

PubMed1998

Severe congenital anomalies requiring transplantation in children with Kabuki syndrome.

Kabuki syndrome (KS) is a rare multiple malformation disorder characterized by developmental delay, distinct facial anomalies, congenital heart defects, limb and skeletal anomalies, and short stature. Renal anomalies have been reported in a few cases of KS, but to our knowledge, hepatic anomalies have not. Here, we document two cases of KS requiring liver or kidney transplantation: one with severe hepatic and renal anomalies and one with severe renal anomalies. Both cases had the characteristic facial appearance of children with KS, postnatal growth deficiency, and developmental delay. At birth, case 1 presented with hypoglycemia, ileal perforation, right hydroureter, and hydronephrosis. The patient subsequently developed hyperbilirubinemia, hepatic abscess, and cholangitis. At age 8 months, he underwent a liver transplant. Hepatic pathology diagnosed neonatal sclerosing cholangitis. Case 2 presented with renal failure at age 6 years. Renal ultrasound study showed markedly dysplastic kidneys requiring transplantation. In addition to characteristic findings of KS, she had coronal synostosis and was shown to have immune deficiency and an autoimmune disorder manifesting as Hashimoto thyroiditis and vitiligo. We conclude: 1) severe hepatic and renal anomalies leading to organ failure can occur in KS; 2) patients with neonatal sclerosing cholangitis should be examined closely for features of KS; 3) coronal synostosis may occur in KS; and 4) immune deficiency and autoimmune disorder can be associated with KS.

Abnormalities, Multiple↗

PubMed1999

Clinical features and revised diagnostic criteria in Joubert syndrome.

The clinical presentation of children with Joubert syndrome can include nonspecific features such as hypotonia, ataxia, and developmental delay. Careful examination of the face shows a characteristic appearance, and a neuro-ophthalmologic examination shows the presence of oculomotor apraxia. In the neonatal period, most children have hyperpnea intermixed with central apnea. Neuroimaging of the head in the axial plane demonstrates the "molar tooth sign"--deep posterior interpeduncular fossa, thick and elongated superior cerebellar peduncles, and hypoplastic or aplastic superior cerebellar vermis. The central nervous system malformation spectrum observed in radiologic and neuropathologic studies accounts for many clinical features of Joubert syndrome. The developmental delay and cognitive impairment cannot be fully explained by the hindbrain malformation and probably result from dysfunction of the cerebral hemispheres. Although related conditions with vermian hypoplasia or aplasia (including Arima; Senior-Loken; and cerebellar vermian hypoplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis syndromes) can mimic Joubert syndrome, detailed imaging data are lacking in such cases. We propose a revision in diagnostic criteria for Joubert syndrome.

Abnormalities, Multiple↗

PubMed1990

A child with multiple congenital anomalies and karyotype 46,XY,del(14)(q31q32.3): further delineation of chromosome 14 interstitial deletion syndrome.

We report on an infant with a multiple congenital anomaly syndrome and severe developmental delay in association with a previously undescribed de novo interstitial deletion of chromosome 14 [karyotype: 46,XY,del(14) (q31q32.3)]. Comparison of the presented patient with previously reported cases of interstitial and terminal chromosome 14q deletions provides a group of patients monosomic for various overlapping portions of the distal half of chromosome 14q and suggests a limited similarity in phenotype among patients with common deleted 14q segments. All patients with distal 14q deletions were developmentally delayed, most were microcephalic and failed to thrive. Most of the patient's anomalies were limited to the face and head. Few major internal congenital anomalies were observed. These comparisons serve to further clarify possible associations of subchromosomal aberrations with specific phenotypes.

Abnormalities, Multiple↗