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PubMed2005

Pediatricians' reported practices regarding developmental screening: do guidelines work? Do they help?

BACKGROUND: In 2001, the American Academy of Pediatrics (AAP) adopted a policy that all infants and young children should be screened for developmental delays at regular intervals. The policy statement promoted the use of valid reliable instruments. It is unknown, however, what proportion of pediatricians follow this recommendation and whether such a practice is associated with improved identification of children with developmental difficulties. OBJECTIVES: To describe the use of developmental screening tests among board-certified pediatricians practicing general pediatrics and to determine the association between standardized screening and the self-reported identification of children with developmental difficulties. METHODS: We mailed a survey to a random sample of AAP members. We used multivariate logistic/linearregression analyses to determine the association between standardized screening and the self-reported identification of children with developmental disabilities. RESULTS: Of the 1617 surveys mailed, 894 were returned, for a response rate of 55%. Of the respondents, 646 practiced general pediatrics and were included in the analysis. Seventy-one percent of those pediatricians indicated that they almost always used clinical assessment without an accompanying screening instrument to identify children with developmental delays. Only 23% indicated that they used a standardized screening instrument. The most commonly used instrument was the Denver II. Logistic regression modeling demonstrated odds ratios between 1.71 and 1.90 for a >10% rate of identification of developmental problems among patients of pediatricians reporting standardized screening. Each adjusted odds ratio bordered on statistical significance. Linear-regression models estimating the difference in mean proportions of children identified with developmental problems across screening groups failed to show a statistically or clinically significant difference in physician-reported identification rates. CONCLUSIONS: Our findings indicate that, despite the AAP policy and national efforts to improve developmental screening in the primary care setting, few pediatricians use effective means to screen their patients for developmental problems. It is uncertain whether standardized screening, as it is practiced currently, is associated with an increase in the self-reported identification of children with developmental disabilities.

Child, Preschool↗

PubMed1990

Early development of boys with Duchenne muscular dystrophy.

Thirty-three boys with Duchenne muscular dystrophy (DMD) and a mean age of 3.4 years were assessed with the Griffiths Developmental Scales, the Reynell Language Scales and the British Picture Vocabulary Scales at six-monthly intervals over a one-year period. The boys showed developmental delay, which was most severe in the locomotor and language areas. The locomotor quotients deteriorated over time, but the other quotients did not. Maternal intelligence, home environment and social class had little effect on the aetiology of the developmental delay, and the behavioural problems seen in young boys with DMD may be secondary to it.

Child, Preschool↗

PubMed2001

Using the Colorado birth defects monitoring program to connect families with services for children with special needs.

BACKGROUND AND METHODS: The Community Notification and Referral Program (CNRP), which operates from within the state's birth defects monitoring and prevention program, links children and their families with local public health and early childhood agencies, which then inform families of services and resources in their home communities. In Colorado, many communities have developed systems for identifying, screening, evaluating, and providing services to children with developmental delays or other special needs. CNRP uses the existing infrastructure of services for children with special needs by notifying local community programs of children reported to the birth defects program with birth defects, developmental disabilities, or risks for developmental delay. Children to be referred to local agencies are identified from the birth defects registry on the basis of diagnosis and residence. Minor or lethal conditions are excluded from referral. CNRP provides the child's name, date of birth, address, phone, guardian, diagnoses, date and source of diagnosis, and length of stay to the local agency. A parental consent process is used under some circumstances. RESULTS: CRCSN analyzed data from 1621 children referred to local agencies in 1998. The local agencies contacted 34.1% of the families and referred 46.9%. of those contacted to early intervention, developmental, evaluation, or other services. They determined that 29.5% could definitely or moderately benefit from developmental services. In a telephone survey of families, 65.4% said they had learned about services, resources, or developmental screening about which they had not been aware. CONCLUSION: CRCSN has developed a notification and referral program to link families with services for children with special needs that could serve as a model for other birth defects registries.

Adolescent↗

PubMed2006

Pattern of childhood epilepsies with neuronal migrational disorders in Oman.

Neuronal migrational disorders form a significant cause of psychomotor delay and intractable epilepsy in children. Pediatric neurology services are available at Sultan Qaboos University Hospital, Muscat, Oman, which is a tertiary care hospital for the whole country. The children undergoing evaluation for developmental delay and epilepsy formed the subjects of the study. Data were analyzed from children found to have neuronal migrational disorders on imaging (computed tomography [CT] or magnetic resonance imaging [MRI]). There were 40 cases of neuronal migrational disorders. Corpus callosum agenesis and lissencephaly or pachygyria formed the major group. There were 22 cases of corpus callosum agenesis, 12 of lissencephaly or pachygyria, 2 of schizencephaly, and 1 each of polymicrogyria, holoprosencephaly, hydranecephaly, and hemimegalencephaly. Nineteen of these 40 (47.5%) cases of neuronal migrational disorders had epilepsy. The break-down was 8 of 22 cases of corpus callosum agenesis (36%), 7 of 12 (58.3%) cases of lissencephaly or pachygyria, and 1 each of polymicrogyria, hydranencephaly, and hemimegalencephaly. The family history of developmental delay, similar to the index case, was present in two children with lissencephaly. However, the brain imaging did not reveal the abnormality. The types of seizures were infantile spasms in five, tonic-clonic in nine, myoclonic in two, partial in one, and mixed in five. Nineteen of 40 cases of neuronal migrational disorders had epilepsy. Only 2 of 19 (10.5%) with epilepsy had good seizure control. This raises the possibility of more and more surgical intervention in the management of such cases. Neuronal migrational disorders are related to exogenous and genetic factors from the 6th to 26th weeks of gestation. Molecular and genetic research is defining the mechanism of these disorders. This could help in early diagnosis, prevention, and eventual gene therapy in such conditions.

Agenesis of Corpus Callosum↗

PubMed2006

Nablus mask-like facial syndrome is caused by a microdeletion of 8q detected by array-based comparative genomic hybridization.

In 2000, Teebi reported on a 4-year-old boy with a distinctive pattern of malformation, which he termed the "Nablus mask-like facial syndrome" (OMIM# 608156). Characterization of this syndrome has been difficult because of the paucity of patients described in the medical literature and its unknown etiology and pathogenesis. We present two patients with Nablus mask-like facial syndrome who both display a microdeletion in the 8q21-8q22 region detected by array-based comparative genomic hybridization. Patient 1, a boy, has a distinct facial appearance characterized by severe blepharophimosis, tight-appearing glistening facial skin, sparse and unruly hair, a flat and broad nose, and distinctive ears that are triangular in shape with prominent antihelices. He also demonstrates camptodactyly, contractures, unusual dentition, cryptorchidism, mild developmental delay, and a happy demeanor. Patient 2, a girl with a strikingly similar phenotype, was previously described in a report by Salpietro et al. 2003. She has distinctive ears, dental anomalies, and developmental delay. The etiology of her pattern of malformation was not identified at that time. Although high-resolution chromosome and subtelomeric FISH analyses were normal, array-based comparative genomic hybridization revealed an approximately 4 Mb deletion involving the 8q21.3-8q22.1 region in both patients. This region encompasses a number of genes that may contribute to this unique phenotype. These results demonstrate a chromosomal microdeletion as the etiology of Nablus mask-like facial syndrome and emphasize the diagnostic utility of array-based comparative genomic hybridization in the evaluation of multiple malformation syndromes of previously unrecognized causation.

Abnormalities, Multiple↗

PubMed1998

Blepharophimosis: a causally heterogeneous malformation frequently associated with developmental disabilities.

We report on 22 individuals referred for genetic evaluation because of blepharophimosis. Fourteen of these patients had the blepharophimosis syndrome: 5 familial and 9 sporadic. Mental retardation or developmental delay was seen in 8 of the 12 children in whom this could be assessed. Eight of 22 children had a malformation syndrome other than the blepharophimosis syndrome. All 8 of these children were mentally retarded or developmentally delayed. Two of these 8 had recognized disorders (branchio-oto-renal syndrome and a ring 4 chromosome); the remaining 6 had unrecognized malformation syndromes. Based on this information, it is suggested that children with blepharophimosis be evaluated carefully for underlying conditions and that they be observed for developmental disabilities because of the frequent association.

Blepharophimosis↗

PubMed1984

Factors associated with parents' and professionals' perceptions of infants in an early intervention program.

Mothers and regular intervention home visitors rated temperament characteristics of 39 high risk or developmentally delayed infants (approximately 9 months corrected age). Mothers who reported greater depression rated their infants as less optimal on several temperament dimensions. Similarly, mothers who were single, less educated, or had infants showing greater developmental delay, described their infants' temperament as less satisfactory than did other mothers. These maternal variables also correlated with home visitors' ratings of infant temperament, although the number of significant correlates was fewer. Discrepancies between parent and professional reports were examined. Mothers of infants showing poorer development rated their infants more positively on activity and rhythmicity than did professionals. Higher educated mothers also tended to report higher activity levels for their infants than did the home visitors. Infant activity, as rated by home visitors, is highly correlated with infant's developmental status. Perhaps mothers of poorly developing infants and those with greater education overestimate infant activity because they have relatively greater difficulty accepting the extent of their infants' functional limitations.

Adult↗

PubMed2000

Attention and joint attention in preschool children with autism.

Three experiments examined the role of attention in explaining dyadic (child-adult) and triadic (child-adult-object) joint attention difficulties in autism. Experiments 1 and 2 investigated children's ability to orient to an adult's attention bid and to follow the direction of a human or nonhuman cue. Experiment 3 tested ability to disengage and shift attention to objects. Results showed autism-specific difficulties at both dyadic and triadic levels. Children with autism were less responsive than developmentally delayed controls in orienting to attention bids and in following a human head-turn cue yet had no difficulty in shifting attention and were faster overall in orienting to targets. Results suggest a specific developmental delay in which children with autism rely on the presence of objects in the visual field to guide action. The relation between this problem and autistic children's difficulties with human communicative signals is discussed.

Attention↗

PubMed1997

Novel case of del(17)(q23.1q23.3) further highlights a recognizable phenotype involving deletions of chromosome (17)(q21q24).

We report on a girl with a phenotype and developmental profile initially suggestive of Angelman syndrome. Subsequently she was shown to have an interstitial deletion of the long arm of chromosome 17; [del(17)(q23.1q23.3)], the smallest unique cytogenetic deletion in this region documented to date. These findings and those of 4 others from the literature, with overlapping deletions of 17q and breakpoints between 17q21-17q24, are reviewed and compared. Similar phenotypic findings include growth retardation, global developmental delay, and specific musculoskeletal and craniofacial anomalies. The size of the specific deletion, and the proximal and distal breakpoints at this region of chromosome 17q, appear to be important in determining morbidity from cardiac involvement and may affect the extent of developmental delay.

Angelman Syndrome↗

PubMed2004

"Benign" extra-axial fluid in survivors of neonatal intensive care.

OBJECTIVES: To identify the prevalence of "benign" extra-axial fluid (BEAF), the risk factors associated with this condition, and the natural history in "graduates" of neonatal intensive care. DESIGN: Cross-sectional study. SETTING: Neonatal follow-up clinic at a tertiary care center. PATIENTS: Seventy-seven infants with a head circumference greater than the 95th percentile by growth percentiles from either the National Center for Health Statistics or the Infant Health and Development Program growth percentile graphs who attended the Neonatal Follow-up Program at The Children's Hospital of Philadelphia between January 1, 1998, and December 31, 2001. MAIN OUTCOME MEASURES: Bronchopulmonary dysplasia, extracorporeal membrane oxygenation; development at 18 to 24 months. RESULTS: There were 26 infants (34%) in the BEAF group, 43 (56%) in the control group without extra-axial fluid, and 8 (10%) in the hydrocephalus group. Compared with the control group, infants with BEAF were more likely to have bronchopulmonary dysplasia or to require use of extracorporeal membrane oxygenation in the immediate neonatal period (risk ratio, 6.1; 95% confidence interval, 1.5-29.8). Measurements of head circumference in the BEAF group showed rapid growth between 3 and 12 months, followed by growth greater than and parallel to the 95th percentile. Head circumference measurements in the control group showed continued growth along the 95th percentile for age. Infants with BEAF were more likely than controls to develop cerebral palsy (risk ratio, 9.9; 95% confidence interval, 1.3-77.9) and to have evidence of developmental delay at adjusted ages 12 and 18 to 24 months. CONCLUSION: The presence of extra-axial fluid in macrocephalic survivors of neonatal intensive care is associated with an increased risk of developmental delay and cerebral palsy compared with control macrocephalic survivors.

Chi-Square Distribution↗

PubMed2005

Differential detection of deletion 22q11.2 syndrome by specialty and indication.

This study identified cytogenetic abnormalities in a population screened for deletion 22q11.2 syndrome (D22S) by fluorescence in situ hybridization (FISH) and G-banding and correlated these abnormalities to referring specialty and submitted indications. Requests for the D22S FISH assay were retrospectively reviewed over a 29-month period in our institution. Positive test results for D22S FISH and other abnormalities found by other FISH assays and G-banding were correlated to submitting specialist and indication. Thirteen medical services ordered D22S FISH testing on 297 patients over 29 months. The detection rate for all cytogenetic aberrations was 9.4% (28 of 297) including 5.4% (16 of 297) for D22S detection by FISH and 2.7% (8 of 297) for detection of additional cytogenetic anomalies by G-banding cytogenetics. Sixty-six of 297 patients negative by D22S FISH and G-banding were screened using other FISH assays and 3 of 47 (6.4%) patients screened using subtelomeric probes were positive for deletion and 1 of 3 (33%) patients screened for Prader-Willi syndrome was positive for deletion. Pediatric geneticists requested 53.9% (160 of 297) of the tests, yielding 60.7% (17 of 28) of positive test results. Tetralogy of Fallot and developmental delay were the indications associated with the most positive test results. In our institution, pediatric geneticists identify the largest spectrum of indications with D22S and appear most aware of the association of developmental delay with D22S. Performing conventional cytogenetics and other FISH assays, in addition to FISH for D22S, is important because there is considerable overlap between D22S and the phenotype of several other syndromes.

Abnormalities, Multiple↗

PubMed1999

Neonatal onset ornithine transcarbamylase deficiency: A retrospective analysis.

OBJECTIVE: A retrospective analysis of 74 cases of neonatal-onset ornithine transcarbamylase (OTC) deficiency. METHODS: The medical records of 74 of the 128 male patients referred to this center with neonatal onset OTC from 1976 to 1996 were available and analyzed. RESULTS: Initial symptoms of OTC deficiency were nonspecific and included feeding difficulties, lethargy, and "respiratory distress"; vomiting was infrequent. Respiratory alkalosis was regularly observed; the mean pH and pCO2 were 7.5 and 24 torr, respectively. Early consideration of a metabolic disorder in those neonates with a negative family history was only 9%. Sepsis was initially misdiagnosed in 50% of the cases. For all patients the mean age at onset was 63 hours. Survival was better among those who had later onset, later diagnostic studies, and diagnosis. Apart from 1 patient whose peak ammonium level was 400 micromol/L, all surviving patients had severe developmental delay. CONCLUSIONS: OTC deficiency should be suspected in term infants who have early signs of encephalopathy, particularly after the first 24 hours; a respiratory alkalosis is pathognomic of urea cycle disorders. Severe developmental delay is the usual outcome of OTC deficiency.

Age Distribution↗

PubMed1990

The high incidence of valproate hepatotoxicity in infants may relate to familial metabolic defects.

The incidence of fatal hepatic failure associated with valproic acid (VPA) therapy is highest in children under the age of three years, particularly in those with developmental delay. The pathogenesis of VPA hepatotoxicity is unclear but may relate to the accumulation of a toxic metabolite of VPA which impairs fatty-acid oxidation. We describe two unrelated infants with developmental delay who developed hepatic failure while receiving VPA. Siblings of both children subsequently developed hepatic steatosis and intractable seizures without being exposed to VPA. This suggests that the two children who developed liver failure when receiving VPA may have had a familial metabolic disorder. Familial metabolic disorders may account partly for the higher incidence of fatal hepatotoxicity described in infants receiving VPA.

Chemical and Drug Induced Liver Injury↗

PubMed2001

Co-existence of lysosomal storage diseases in a consanguineous family.

Lysosomal storage diseases are rare and coexistence of more than one in a family can present a diagnostic challenge as illustrated by this study. The index case born to consanguineous Asian parents presented with developmental delay. Investigations led to an incidental finding of Fabry disease. After numerous additional investigations over a year, a second diagnosis of aspartylglucosaminuria (AGU) was made. A family history of renal disease and developmental delay was disclosed. The sister and first cousin of the index case were diagnosed as homozygous for AGU, but do not have Fabry disease. The younger brother has since been diagnosed with both Fabry disease and AGU. Another cousin has learning difficulties and fits, but is heterozygous for AGU, and possibly has another uncharacterised autosomal recessive disorder. In a family with consanguinity when the clinical picture in an individual is not fully explained by the presence of one rare metabolic disease, it is essential to investigate further for the presence of others.

Acetylglucosamine↗

PubMed2026

CHAMP1-Related Neurodevelopmental Disorder: Two Turkish Cases with Novel Truncating Variants and Literature Review.

INTRODUCTION: CHAMP1-related neurodevelopmental disorder (CHAMP1-NDD; neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features; MIM: 616579) is a rare autosomal-dominant condition caused by de novo truncating variants leading to haploinsufficiency. The phenotype is characterized by global developmental delay, intellectual disability, severe speech impairment, hypotonia, distinctive craniofacial features, and variable multisystem involvement. CASE PRESENTATION: We describe two unrelated girls harboring novel de novo truncating CHAMP1 variants. Both presented with global developmental delay, profound speech impairment, hypotonia, postnatal growth impairment, and characteristic craniofacial features. Neuroimaging demonstrated normal findings in 1 patient and a thin corpus callosum in the other. Additional manifestations included high-grade vesicoureteral reflux in one individual and sensory dysregulation, reduced pain sensitivity, early-onset hyperphagia, and recurrent respiratory infections in the other. Perinatal complications were noted in one case; however, the overall phenotype was considered primarily attributable to the underlying genetic diagnosis. Exome sequencing identified heterozygous truncating variants, NM_032436.4:c.2081_2082del; p.Ser694* and NM_032436.4:c.2062dup; p.Glu688Glyfs*8, both confirmed as de novo and classified as likely pathogenic according to American College of Medical Genetics and Genomics (ACMG) criteria. CONCLUSION: These cases expand the mutational spectrum of CHAMP1 and further delineate the phenotypic variability of this disorder, highlighting under-recognized systemic and behavioral features. Recognition of these additional clinical observations may facilitate earlier diagnosis and multidisciplinary management, although further studies in larger cohorts are required to clarify their clinical relevance.

CHAMP1↗

PubMed1989

Interstitial deletion, del(4)(q33q35.1), in a mother and two children.

The inheritance of autosomal deletions from affected parents has only rarely been reported. We report an unbalanced interstitial deletion, del(4)(q33q35.1), in a mother and two male offspring. The mother and older sib are mentally retarded but have only mild dysmorphic features. The younger sib, at five months, is showing signs of developmental delay. All three patients show some abnormalities in common with cases that have terminal deletions of 4q with breakpoints at 4q33, but in general exhibit less severe abnormalities. The family illustrates the importance of detailed cytogenetic analysis of children with developmental delay who do not display major dysmorphic features.

Adult↗

PubMed1999

Investigation of a cryptic interstitial duplication involving the Prader-Willi/Angelman syndrome critical region.

A 3-year-old female referred with developmental delay, hypotonia and seizures was found to have a cryptic interstitial duplication of the Prader-Willi/Angelman critical region (PWACR). Her clinical features form part of a common phenotype characteristic of PWACR duplications including developmental delay, behavioural problems and speech difficulties. Microsatellite analysis showed that the duplication had arisen de novo, was maternal in origin and involved the entire 4-Mb PWACR between the common deletion breakpoints. The existence of cryptic rearrangements emphasises the need for molecular tests alongside conventional cytogenetics when investigating abnormalities involving this imprinted region.

Angelman Syndrome↗

PubMed2006

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

Monosomy 1p36 is one of the most commonly observed mental retardation (MR) syndromes that results in a clinically recognizable phenotype including delayed psychomotor development and/or MR, hypotonia, epilepsy, hearing loss, growth delay, microcephaly, deep-set eyes, flat nasal bridge and pointed chin. Besides, a Prader-Willi syndrome (PWS)-like phenotype has been described in patients with 1p36 monosomy. Forty-one patients presenting hypotonia, developmental delay, obesity and/or hyperphagia and behavioral problems who tested negative for PWS were investigated by FISH and/or microsatellite markers. Twenty-six were analyzed with a 1p-specific subtelomeric probe, and one terminal deletion was identified. Thirty patients (15 of which also studied by FISH) were investigated by microsatellite markers, and no interstitial 1p36 deletion was found. Our patient presenting the 1p36 deletion did not have the striking features of this monosomy, but her clinical and behavioral features were quite similar to those observed in patients with PWS, except for the presence of normal sucking at birth. The extent of the deletion could be limited to the most terminal 2.5 Mb of 1p36, within the chromosomal region 1p36.33-1p36.32, that is smaller than usually seen in monosomy 1p36 patients. Therefore, chromosome 1p36.33 deletion should be investigated in patients with hypotonia, developmental delay, obesity and/or hyperphagia and behavioral problems who test negative for PWS.

Adolescent↗