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PubMed2005

Concurrent validity of the Comprehensive Developmental Inventory for Infants and Toddlers with the Bayley Scales of Infant Development-II in preterm infants.

BACKGROUND AND PURPOSE: The Comprehensive Developmental Inventory for Infants and Toddlers (CDIIT) is a new developmental test designed in Taiwan and lacks concurrent validity information. This study investigated the concurrent validity of the CDIIT with the Bayley Scales of Infant Development-II (BSID-II) in preterm infants aged 6-18 and 21-40 months, respectively. METHODS: We recruited 160 preterm infants (84 boys, 76 girls) with a corrected age of 6-18 months and followed them up until 21-40 months of age. One tester administered the CDIIT and BSID-II to all infants. Developmental ages (DAs) and developmental quotients (DQs) from both tests were analyzed with Pearson correlation and kappa tests. RESULTS: Correlation coefficients for DAs and DQs between the 2 cognitive and motor subtests and classification agreements were high at 6-18 months (r = 0.80-0.97; kappa = 0.80, 0.85) and moderate to high at 21-40 months (r = 0.60-0.77; kappa = 0.44, 0.57). DQ classification for the CDIIT motor subtests tended to be higher than for the BSID-II motor scales at 21-40 months. CONCLUSIONS: In preterm infants, concurrent validity between the motor and cognitive subtests of the CDIIT and the BSID-II was acceptable. The CDIIT can be thus used in clinics for the early identification of developmental delay in infants and toddlers.

Child Development↗
PubMed1998

Do actions speak louder than words? The case of the disappearance of social communication oddities.

Within the last decade, researchers and clinicians have reported an increase in the incidence and diagnosis of Autism Spectrum Disorder (ASD). Various factors have been proposed for this apparent change including broader diagnostic criteria, greater public awareness, biological and environmental interactions, and earlier detection. However, it has been observed in a certain percentage of children, during the toddler and preschool years and before intervention is introduced, that severe language deficits distort social and self-regulatory behavior to such a degree that they mimic the characteristics of ASD. Professional caution is vital in this regard to describe early functioning and to defer diagnosis until the effects of intervention and treatment can be monitored over time. The case of Nicole, a preschooler with developmental delays and social communication oddities, illustrates what I believe is the most professionally responsible, cautious, family-centered, and data-based diagnostic process that links assessment, intervention, and evaluation for young children with early developmental difficulties.

Autistic Disorder↗
PubMed2005

Children in adoptive families: overview and update.

OBJECTIVE: To summarize the past 10 years of published research concerning the 2% of American children younger than 18 years old who are adoptees. METHOD: Review recent literature on developmental influences, placement outcome, psychopathology, and treatment. RESULTS: Adoption carries developmental opportunities and risks. Many adoptees have remarkably good outcomes, but some subgroups have difficulties. Traditional infant, international, and transracial adoptions may complicate adoptees' identity formation. Those placed after infancy may have developmental delays, attachment disturbances, and posttraumatic stress disorder. Useful interventions include preventive counseling to foster attachment, postadoption supports, focused groups for parents and adoptees, and psychotherapy. CONCLUSIONS: Variables specific to adoption affect an adopted child's developmental trajectory. Externalizing, internalizing, attachment, and posttraumatic stress disorder symptoms may arise. Child and adolescent psychiatrists can assist both adoptive parents and children.

Adoption↗
PubMed2004

Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

BACKGROUND: Deletions and mutations in the NSD1 gene are the major cause of Sotos syndrome. We wanted to evaluate the genotype-phenotype correlation in patients suspected of having Sotos syndrome and determine the best discriminating parameters for the presence of a NSD1 gene alteration. METHODS: Mutation and fluorescence in situ hybridization analysis was performed on blood samples of 59 patients who were clinically scored into 3 groups. Clinical data were compared between patients with and without NSD1 alterations. With logistic regression analysis the best combination of predictive variables was obtained. RESULTS: In the groups of typical, dubious and atypical Sotos syndrome, 81, 36 and 0% of the patients, respectively, showed NSD1 gene alterations. Four deletions were detected. In 23 patients (2 families) 19 mutations were detected (1 splicing defect, 3 non-sense, 7 frameshift and 8 missense mutations). The best predictive parameters for a NSD1 gene alteration were frontal bossing, down-slanted palpebral fissures, pointed chin and overgrowth. Higher incidences of feeding problems and cardiac anomalies were found. The parameters, delayed development and advanced bone age, did not differ between the 2 subgroups. CONCLUSIONS: In our patients suspected of having Sotos syndrome, facial features and overgrowth were highly predictive of a NSD1 gene aberration, whereas developmental delay and advanced bone age were not.

Abnormalities, Multiple↗
PubMed1995

Ornithine transcarbamylase deficiency in females: an often overlooked cause of treatable encephalopathy.

Ornithine transcarbamylase deficiency is an X-linked recessive disorder of urea biosynthesis characterized by recurrent, often fatal, hyperammonemic encephalopathy in affected males; carrier females are usually asymptomatic. We report here the clinical and laboratory findings in five symptomatic heterozygous females with ornithine transcarbamylase deficiency. In each case, the onset of symptoms occurred in the 1st year of life, but diagnosis was delayed by up to 15 years. Symptoms included recurrent vomiting with lethargy (five patients), dietary protein intolerance (five), irritability (four), severe acute encephalopathy (three), ataxia (three), and acute hemiparesis (two). All eventually showed evidence of developmental delay or learning difficulties. Two of the three who experienced severe, acute, hyperammonemic encephalopathy suffered serious, permanent neurologic sequelae. Three of the patients showed decreased ornithine transcarbamylase activity in liver obtained by needle biopsy, and the other two had marked orotic aciduria associated with hyperammonemia. Neuroimaging studies demonstrated persistent abnormal lobar attenuation and abnormal signal on computed tomographic scan and magnetic resonance imaging. All patients showed marked symptomatic improvement on treatment with dietary protein restriction supplemented by pharmacologic measures to increase nonprotein nitrogen excretion. Ornithine transcarbamylase deficiency should be considered in the differential diagnosis of acute or chronic encephalopathy in females at any age.

Adolescent↗
PubMed2001

Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age.

Children with a 22q11 deletion versus children with a speech-language impairment and learning disability: behavior during primary school age: Common behavioral features described in children with the Velo-Cardio-Facial syndrome (VCFS) (del 22q11) are problems with attention and concentration, extremes in behavior and social problems, especially in relationship with peers. At present, it is unclear whether these behavioral manifestations are directly related to the chromosomal anomaly or related to other manifestations of the syndrome such as developmental delay and speech-language delay. This study describes for the first time the behavior of young primary school aged children with a del22q11 compared to a control group of children matched for age, sex and mental level, with similar developmental problems (speech-language impairment plus learning disability: SLI + LD) but without a del22q11 or any other known genetic condition. Parents and teachers evaluated the children's behavior with standardized questionnaires (CBCL; TRF). Results indicate that most of the behaviors are similar across both groups. The only differences found are in the field of < > and < >. Children with a del22q11 have a stronger tendency to withdraw from others, whereas children with a SLI+LD seem to be more aggressive.

Abnormalities, Multiple↗
PubMed2026

Pathogenic POLRMT variants in mice impair mtDNA transcription and affect perinatal survival.

Mitochondrial gene expression is essential for oxidative phosphorylation that generates the bulk of the cellular ATP, and mitochondrial dysfunction is a common cause of human metabolic diseases. Recently, the first pathogenic variants in the only known mitochondrial RNA polymerase (POLRMT) were described in patients presenting with a wide variety of clinical manifestations, including hypotonia, short stature, and developmental delay. Here, we modeled two human pathogenic POLRMT variants by creating the corresponding substitutions in mice: the dominant S582F and the recessive R984C variant. Mice homozygous for the R984C variant showed perinatal lethality without apparent embryonic developmental defects, a finding consistent with a failure to adapt to the metabolic transition to oxidative metabolism at birth. Mice carrying the S582F variant were viable and exhibited decreased mitochondrial transcript levels due to impaired de novo transcription. However, mtDNA levels and in organello mtDNA replication remained normal, which recapitulates the molecular phenotypes observed in patients. Altogether, our findings indicate that the conserved arginine near the active site is essential for POLRMT function, while the serine in the intercalating hairpin of the N-terminal domain is required for near-genome length transcription but not primase activity. This study highlights genotype-phenotype differences and provides new insights into POLRMT function.

Animals↗
PubMedDate not supplied

The diagnostic yield of the nerve-muscle skin biopsy in paediatric neurology practice. The Montreal Children's Hospital Neuromuscular Group.

OBJECTIVE: To determine the diagnostic yield of the nerve-muscle-skin (NMS) biopsy in paediatric neurology practice. STUDY DESIGN: A consecutive series of 98 paediatric NMS biopsies done 1989-1994 retrospectively reviewed in the context of pre-biopsy clinical and laboratory parameters. Bivariate associations based on chi-square test. Unconfounded associations between pre-biopsy variables and positive diagnostic yield (PDY) assessed by multiple logistic regression. RESULTS: Fifty seven out of 98 patients central (global delay, seizures, abnormal CNS imaging) process; 41/98 patients peripheral (motor delay, weakness) process, electromyography-nerve conduction studies (EMG-NCS) 87/98 cases; abnormal 43/87. Positive diagnostic yield (PDY) in 42/98 (43%) biopsies. Statistically significant bivariate associations between PDY and pre-biopsy; age, presenting symptom, developmental delay, weakness, reflexes, CPK, lactate, EMG-NCS and process. Unconfounded associations demonstrated with PDY and age, reflexes and process. The presence of a peripheral process or an abnormal EMG-NCS strongly predictive of PDY: 34/41 (83%) peripheral process cases had PDY, 32/40 (80%) abnormal EMG-NCS cases had PDY, and 29/31 (93.5%) peripheral process and abnormal EMG-NCS cases had PDY. Abnormal EMG-NCS with central process improved PDY to 3/9 (33%) from 4/37 (11%) for normal EMG-NCS. CONCLUSION: NMS biopsy is a valuable diagnostic tool, particularly in the context of a suspected peripheral process or a central processes with an abnormal EMG-NCS.

Biopsy↗
PubMed1999

Neurodevelopmental outcome after antenatal diagnosis of posterior fossa abnormalities.

Posterior fossa abnormalities are sonographically diagnosable in the fetus. Anomalies of this region include Dandy-Walker malformation, enlarged cisterna magna, and arachnoid cyst. Despite prenatal diagnosis, the uncertainties related to natural history and neurodevelopmental outcome in survivors make patient counseling difficult. The purposes of this study were to determine the accuracy of prenatal diagnosis of these lesions and elucidate long-term neurodevelopmental outcome in survivors in prenatally diagnosed posterior fossa abnormalities. Fifteen cases of posterior fossa abnormalities were reviewed. Antenatal diagnoses of Dandy-Walker malformation was made in 13 of these cases, arachnoid cyst in one case, and enlarged cisterna magna in one case. Hydrocephalus was present in 66% of patients. The sonographic diagnosis was concordant with the pathologic or neonatal radiologic diagnosis in 13 of 15 cases. Seven fetuses (47%) exhibited additional cranial or extracranial anomalies. A karyotypic abnormality (trisomy 18) was found in one of 15 cases of posterior fossa abnormalities. Neurodevelopmental delay was present in 80% of survivors with follow-up study to 4 years of age. Prenatal diagnosis of posterior fossa abnormalities is highly accurate, yet the differential diagnosis can be challenging. Cognitive and psychomotor developmental delays remain commonplace despite early diagnosis and treatment. The approach with families in cases of prenatal diagnosis of posterior fossa abnormalities should include a search for additional central nervous system and extra-central nervous system anomalies in the fetus and counseling of parents regarding potential adverse outcome for survivors.

Abnormalities, Multiple↗
PubMedDate not supplied

Scoliosis in velo-cardio-facial syndrome.

Velo-cardio-facial (VCF) syndrome caused by 22q11.2 deletion is a common genetic condition with variable features including congenital heart defects, facial anomalies, palatal anomalies, and cognitive problems. Besides the main characteristics, various other anomalies have been noted, including musculoskeletal problems. Scoliosis has been mentioned but not emphasized as a common feature. The authors evaluated 20 patients for scoliosis and connective tissue anomalies who were consecutively diagnosed with VCF syndrome and 22q11.2 deletion at their clinics. The authors describe three children with VCF syndrome who had significant scoliosis and connective tissue findings. Two of these patients were initially referred to genetics for possible Marfan syndrome. The authors suggest that scoliosis should be considered a relatively common finding in patients with 22q11.2 deletion, and they should be monitored for this problem. In addition, 22q11.2 deletion should be among the diagnostic considerations in patients with unexplained scoliosis and developmental delay.

Abnormalities, Multiple↗
PubMed1992

The detection of developmental problems in children.

General practitioners are ideally placed to assist in the identification of children whose development is slower than expected for age. In this article various methods of detecting developmental delay are discussed, and an algorithm is proposed for application in a busy office.

Age Factors↗
PubMedDate not supplied

Mommy first.

Parents of children with special health care needs are often required to assume responsibility for the complex care of their children. It is important for pediatric nurses to remember these parents are, first and foremost, the child's parents and primarily responsible for loving their child, providing a safe and secure home, and fostering their child's development as a person. Pediatric nurses should support the parents in the medical/nursing care of their child in whatever way possible so the parents have more time to parent. This account from a mother of a child with developmental delay helps remind us of our need to help support parents in being "parents first."

Adaptation, Psychological↗
PubMedDate not supplied

[Central nervous system changes in infants with HIV infection. Epidemiology and neurology].

The increase of HIV infected population reaching worldwide 10 million of cases leads to a great number of infected women in reproductive age. Finally the perinatally acquired HIV infection has become a great problem. The number of infants with AIDS is estimated at about 160,000. The diagnosis and evaluation of significant clinical symptoms of HIV infection in infants are briefly described in this study. The nervous system being one of targets of HIV infection the neurological manifestation occurring in infants were more extensively discussed. Microencephaly or brain atrophy and psycho-motor developmental delay resulting in progressive or static encephalopathy syndromes were presented.

Acquired Immunodeficiency Syndrome↗
PubMed1993

Sensorineural outcome at 2 years for survivors of erythroblastosis treated with fetal intravascular transfusions.

OBJECTIVE: To determine the sensorineural outcome at 2 years of age in a complete cohort of survivors of fetal intravascular transfusions. METHODS: From March 1984 to May 1990, 38 of 52 consecutive fetuses (73%) suffering from severe erythroblastosis survived attempted intravascular transfusions at the Royal Women's Hospital, Melbourne. At 2 years of age, corrected for prematurity where appropriate, the survivors had a psychological assessment, including the mental developmental index of the Bayley scales, and a standardized neurodevelopmental examination. RESULTS: Only one transfused child had a severe sensorineural disability, with severe developmental delay and multiple minor motor seizures. Another child was moderately disabled with spastic hemiplegia. In neither case were complications of an intravascular transfusion the likely explanation for the disability. Only one other child had a mental developmental index in the suspect range. The remaining 35 children (92.1%) had no sensorineural disability. The overall rate of sensorineural impairments and disabilities was lower in the group transfused than in previous reports of survivors of intraperitoneal transfusions. The mean mental developmental index was significantly higher in the transfused group than in a control group of normal birth weight children. CONCLUSION: Children who survive fetal intravascular transfusions compare favorably not only with other high-risk survivors, but also with low-risk children.

Blood Transfusion, Intrauterine↗
PubMed1998

Targets and cues: gaze-following in children with autism.

Children with autism are known to have difficulties in sharing attention with others. Yet one joint attention behaviour, the ability to follow another person's head turn and gaze direction, may be achieved without necessarily sharing attention. Why, then, should autistic children have difficulties with it? In this study we examined the extent of this difficulty by testing school-aged autistic children across three different contexts; experiment, observation, and parent interview. We also tested whether the ability to orient to another person's head and gaze could be facilitated by increasing children's attention to environmental targets and social cues. Results for experiment and observation demonstrate that a sizeable proportion of children with autism did not have difficulties with following another's head turn. There was a difference between children with high and low verbal mental ages, however. Whereas children with higher mental ages (over 48 months) were able to orient spontaneously to another person's head turn, children with lower mental ages had difficulties with this response. When cues were added (pointing, language) or when feedback from targets was given, however, their performance improved. Parent interview data indicated that children with autism, whatever their mental age, began to follow head turn and gaze direction years later than typically developing children. Developments in attention and language are proposed as possible factors to account for this developmental delay.

Age Factors↗
PubMed1998

Neurodevelopment of surviving infants at age two years, with a birthweight less than 2000 g and cared for in neonatal intensive care units (NICU)--results from a population based longitudinal study in Taiwan.

All surviving infants from nine neonatal intensive care units (NICU) in a southern city and county of Taiwan were followed up and assessed at 2 y of age if they had a birthweight of less than 2000 g and were born between February 1, 1993 and January 31, 1994. The assessments included: neurological, growth and general health. A comparison group of normal birthweight and full-term infants without congenital anomalies, matched by birth month and sex to the NICU survivors was also studied with respect to the same outcome measures. A developmental delay (either a severe neurological deficit or Mental Development Index < 68 or Psychomotor Development Index < 68) was present in 21 (15.4%) of the cases, compared to 3 (2.5%) of the controls (P < 0.0004). Significant correlates of developmental outcome for the cases were birthweight, gestational age, and maternal education. The very low birthweight (VLBW) children (< 1500 g) in our study cohort had a comparatively higher incidence of severe neurological deficits (and cerebral palsy) than that reported by other similar studies in developed countries. The incidence of abnormal neurodevelopmental outcome remained high in the graduates of NICU at 2 y of age, compared to that in normal controls. The findings have important implications in future health policy making regarding postnatal management of the surviving infants of NICU in developing countries such as Taiwan.

Case-Control Studies↗
PubMedDate not supplied

Prenatally drug-exposed children in out-of-home care: are we looking at the whole picture?

Publicity on children exposed prenatally to drugs has fostered tremendous concern about their cognitive and behavioral development. This concern is reflected in the out-of-home care system, where the number of children from drug-involved families has increased dramatically. This article examines the conflicting views in the literature on the effects of prenatal exposure to drugs and reports on an early intervention project in a New York City agency. The rate of developmental delay was found to be virtually the same for children with and without prenatal exposure to drugs. Implications of these findings for practice and research are considered.

Child, Preschool↗
PubMed1989

Development of the Miller Screening for Preschoolers.

This paper describes the development and initial validation of the Miller Screening for Preschoolers (MSP). A pilot edition of the test was administered to 174 preschool children in the state of Colorado. Of these, 39 had been previously identified as developmentally delayed. On the basis of preliminary analyses, test items were discarded if they were insensitive to differences between the at-risk group and the not-at-risk group or if they were nonsignificantly related to developmental age trends; if they were only weakly related to the domain total score; if they were redundant with other items within a domain; if they were too easy or too difficult for any given age; if they were rated low by the testers on administration and scoring issues; or if the test materials were deemed to be too expensive. This paper presents final statistics for the selected screening test items and discusses implications for the design, construction, and validation of developmental tests.

Adaptation, Psychological↗