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PubMed2003

A boy with developmental delay, malformations, and evidence of a connective tissue disorder: possibly a new type of cutis laxa.

We report a 7.5-year-old boy with loose translucent skin, aortic dilatation, hyperextensible veins, recurrent respiratory problems, pectus excavatum, arthralgias, lax joints, mild epiphyseal dysplasia, and umbilical and inguinal hernias. He also has developmental delay, progressive bilateral sensorineural hearing loss, an unusual facial appearance, terminal digit hypoplasia with unusual radiographic changes in some of the phalanges, glandular hypospadias, shawl scrotum, and undescended testes. Biochemical investigations, including electrophoresis of Types 1 and 3 procollagens and collagens, and quantification of serum copper and ceruloplasmin, are normal. Relative to age-matched control patients the electron micrographs of the boy's dermis show elastin fibers to be decreased in number, and abnormal in appearance, with a low matrix to microfibril ratio. The organ distribution of abnormalities and the nature of the findings suggest a connective tissue disorder. We contrast and compare this boy's phenotype to those of the classic connective tissue disorders. We conclude that he has cutis laxa with features that distinguish him from previously described types of cutis laxa.

Abnormalities, Multiple↗
PubMed2002

Atypical Down syndrome phenotype with severe developmental delay, hypertonia, and seizures in a child with translocation trisomy 21.

An infant is reported who presented with a de novo 21;21 translocation trisomy 21 and an atypical phenotype for Down syndrome (DS). Findings included microcephaly, small stature, downslanting palpebral fissures, absent Brushfield spots, moderate micrognathia, left ptosis, left torticollis, severe developmental delay, seizures, and hypertonia. Further clinical evaluation using both the diagnostic criteria for DS and the Jackson checklist of 25 signs was inconsistent with the diagnosis for DS. Blood karyotype revealed: 46,XX,+21,dic(21;21) (p11.2;p11.2). Fluorescence in situ hybridization (FISH) analysis confirmed the trisomy 21 translocation. Both parents had normal karyotypes. Chromosome and FISH analyses were performed on skin fibroblasts. These studies revealed mosaicism for a translocation trisomy 21 cell line as wel as a second cell line consisting of one normal chromosome 21 and a ring chromosome 21 derived from translocation 21q21q which appeared to have a deletion of the critical region for DS involving the distal portion of the thelong arm of chromosome 21. The chromosome findings illustrate an atypical phenotype in the spectrum of mosaic DS and suggest possible mechanisms for the variability of the phenotype. It also emphasizes the importance of evaluating other tissues for mosaicism when presented with atypical clinical findings.

Chromosomes, Human, Pair 21↗
PubMed1987

Developmental delays in offspring of rats undernourished or zinc deprived during lactation.

Offspring of rats who were zinc or calorie deprived during lactation were administered a battery of reflex and motor tests from postnatal Day 4 to Day 21. Compared to offspring of ad lib-fed control rats, both zinc deprived and undernourished offspring exhibited developmental delays in reflexes which appeared after the first postnatal week (auditory startle, air righting, and rope descent). As the deficiencies continued the delays appeared to be more pronounced. The zinc deficiency did not add to the deficits associated with calorie restriction alone because there were no significant differences between the zinc deficient and undernourished pups on any of the measures except eye opening. When rehabilitated offspring were tested at 45 and 60 days of age for motor deficits there were no significant impairments resulting from preweaning dietary conditions. However, the growth retardation of zinc deprived and undernourished rats persisted long after dietary rehabilitation was implemented.

Animals↗
PubMed1997

Dubowitz syndrome in a boy without developmental delay: further evidence for phenotypic variability.

Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, epicanthal folds, blepharophimosis, ptosis, and broadening of the bridge and tip of the nose. The initial patients described had varying degrees of mental retardation and there is little information about long-term developmental outcome. We present a boy with Dubowitz syndrome who does not have developmental delays, providing additional evidence that the phenotype includes normal neurodevelopmental status.

Abnormalities, Multiple↗
PubMed1996

Two supernumerary marker chromosomes, derived from chromosome 6 and 9, in a boy with mild developmental delay.

We report on a boy with two supernumerary marker chromosomes which were identified by fluorescence in situ hybridization and derived from chromosome 6 and 9. In lymphocytes, a mosaic karyotype was found: 46,XY (17%)/ 47,XY,r(6) (24%)/47,XY,r(9) (20%)/48,XY,r(6),r(9) (39%). Only minor dysmorphic features and mild developmental delay were present. Despite extensive fluorescence in situ hybridization studies using a large panel of probes, we were unable to characterize the marker chromosomes in more detail, mainly because no probes for the chromosome regions involved were available to us. In order to reach a better understanding of the clinical relevance of small supernumerary marker chromosomes, it will be necessary to create a widely available set of probes, covering all chromosome regions.

Child, Preschool↗
PubMed1983

Self-recognition deficits in autism: syndrome-specific or general developmental delay?

Many reports can be found in the theoretical literature that refer to a lack of self-awareness or a failure to distinguish self from nonself as a characteristic of autistic children. The empirical literature also contains reports of behaviors in autistic children that have often been taken as reflective of a failure to differentiate self, i.e., pronominal reversal, gaze aversion. The present study investigated the development of self-recognition in 15 autistic children in an effort to determine whether failures of self-recognition were of possible diagnostic significance for the syndrome or rather were reducible to general indices of developmental function, i.e., mental age. Fifty-three percent of the sample showed clear self-recognition. On the basis of a developmental assessment and data from a teacher questionnaire, these children were found to be functioning at mental ages akin to developmental norms for self-recognition. Those who failed to show self-recognition had mental ages below the developmental level at which many children recognize themselves and significantly lower than those autistic children who showed self-recognition. The results suggest that even when autistic children fail to recognize their self-images, this failure can be taken not as evidence for a syndrome-specific deficit but as a reflection of a general developmental delay.

Attention↗
PubMed2001

Relative treatment effects of two prelinguistic communication interventions on language development in toddlers with developmental delays vary by maternal characteristics.

This paper tests whether two prelinguistic communication interventions have a differential effect on productive and receptive language development 6 and 12 months after the end of treatment. We predicted that treatment effects on language development would vary as a function of pretreatment maternal responsivity or amount of mothers' formal education. Fifty-eight prelinguistic children with developmental delays and their mothers participated in the study. Children were randomly assigned to one of two staff-implemented treatments that were designed to increase intentional communication ability. Results confirmed the prediction that treatment effects on children's receptive and expressive language 6 and 12 months after the end of interventions vary as a function of pretreatment maternal responsivity and education level.

Child Language↗
PubMed1999

Paternally derived de novo interstitial duplication of proximal 15q in a patient with developmental delay.

Interstitial duplications of proximal 15q containing the Prader-Willi syndrome/Angelman syndrome (PWS/AS) region have been found in patients with autism or atypical autism. In these cases with an abnormal phenotype, the duplications were maternally derived. Paternal origin of the duplication has been associated with a normal phenotype. We report on a patient who presented with nonspecific developmental delay and partial agenesis of the rostral corpus callosum. Fluorescence in situ hybridization (FISH) studies using probes specific for the PWS/AS region demonstrated a double signal on one chromosome 15, indicating the presence of an interstitial duplication of proximal 15q involving the PWS/ AS region in the patient. Parental chromosomes were normal with FISH studies. Methylation analysis at exon alpha of the SNRPN locus showed a maternal band at 4.2 kb and a paternal band of apparent double intensity at 0.9 kb, suggestive of one copy of the maternal allele and two copies of the paternal allele in the patient. Microsatellite analysis was informative at the GABRB3 locus in the family, which showed the inheritance of two different paternal alleles and a maternal allele in the patient consistent with the origin of this duplication from an unequal crossing over between the two chromosome 15 homologs in the father. This is the first report of an abnormal phenotype associated with a paternally derived duplication of proximal 15q shown to contain the PWS/AS region by molecular techniques.

Agenesis of Corpus Callosum↗
PubMed2006

[Evaluation and diagnosis of patients with developmental delay: standardised protocols from the paediatric point of view].

INTRODUCTION AND AIMS: The identification of the causes of mental retardation (MR) is of great importance because of the consequences it has in the intervention, prognosis, knowledge of risk of recurrence and its prevention. The purpose of this review is to provide a global evaluation of the child with developmental delay or with MR in day-to-day clinical praxis of the neuropaediatrician who has to put aetiological diagnosis in practice. DEVELOPMENT: To this end we conduct a review of the evidence-based guidelines published by the leading groups of experts that assess the weight of diagnostic tests in the initial evaluation of children with MR and propose an algorithm that helps the clinician to make decisions. CONCLUSIONS: A good patient record including the familial and personal history, the examination and observation of behaviour is essential before starting the laboratory and imaging tests in a rational manner. At the outset, cytogenetic and molecular genetic studies are indicated to study fragile X syndrome and neuroimaging, preferably magnetic resonance, should be employed above all when anomalies are observed in the examination. Ophthalmologic and auditory evaluation is recommended in all cases. Routine metabolic screening is not indicated at the outset; studies to investigate thyroid (T4 and TSH) and other metabolic pathologies can be considered when the child has not been subject to neonatal metabolic screening or when there is clinical evidence of it. Routine electroencephalogram studies are not recommended, but can be considered if suggested by the clinical history. Likewise, the clinician may consider a study for toxins, if the clinical history suggests it, and a genetic study of Rett syndrome, in the case of girls with MR that cannot be accounted for by other causes.

Algorithms↗
PubMed2004

Developmental screening and detection of developmental delays in infants and toddlers with fragile X syndrome.

Three developmental screening tests (the Denver-II, Battelle Developmental Inventory Screening Test, and Early Language Milestone Scale-2) were administered to 18 infants and toddlers (13 boys and 5 girls) with confirmed diagnoses of fragile X syndrome as part of a comprehensive developmental assessment at 9, 12, and 18 months of age. The Denver-II identified delays for 10 of 11 boys at 9 months of age and the Denver-II and the Early Language Milestone Scale-2 identified delays in 100% of the boys at 12 and 18 months. The Battelle Developmental Inventory Screening Test identified delays in 75% of the children at 12 and 18 months. When compared with more comprehensive developmental tests (Mullen Scales of Early Learning and Receptive-Expressive Emergent Language Scale-2), the screening tests concurred at least 76% of the time at the 12- and 18-month assessments. These results indicate that developmental delays could be detected in most children with fragile X syndrome through routine developmental screening by the age of 9 to 12 months.

Developmental Disabilities↗
PubMed1994

Clozapine for early developmental delays with childhood-onset schizophrenia: protocol and 15-month outcome.

This paper reports on the pharmacotherapy and long-term follow-up of a child treated with clozapine. It is one of the earliest American experiences with this agent in children to date. Clozapine was relatively effective and safe in this patient. Additional features of the case are the early social and developmental delays preceding schizophrenia, the response of symptoms of childhood-onset schizophrenia to clozapine, and the reduction in tardive dyskinesia symptoms while taking clozapine. Compared to recommendations for dosing adults, a slower rate of increasing clozapine doses was important for this child. For future reference, the protocol and consent form used for this course of treatment are included.

Adolescent↗
PubMed1994

Facilitating prelinguistic communication skills in young children with developmental delay. II: Systematic replication and extension.

Four children with mental retardation were studied in the context of a multiple baseline across subjects design. Staff members used a modified version of the milieu teaching method to facilitate intentional requesting. The results replicated the finding that a modified version of milieu teaching was effective in facilitating the use of intentional requesting by children with developmental delays in an intervention context (Warren, Yoder, Gazdag, Kim, & Jones, 1993). This study also extended the Warren et al. (1993) work by (a) documenting that increased intentional requesting generalized to sessions with the children's mothers, (b) demonstrating that mothers who were naive to the purposes of the study were more likely to linguistically map their children's prelinguistic communication after the intervention than before the treatment, and (c) that mothers and teachers who were naive to the purposes of the study linguistically mapped the children's intentional communication more than the children's preintentional communication. We discuss implications of these results for early intervention, the transactional theory of development, and the importance of the distinction between intentional versus preintentional communication.

Adult↗
PubMed1993

Comparison of the Vineland Social Maturity Scale, the Vineland Adaptive Behavior Scales--survey form, and the Bayley Scales of Infant Development with infants evaluated for developmental delay.

The Vineland Adaptive Behavior Scales is an extensive revision of the Vineland Social Maturity Scale; however, research comparing the two scales with different populations and measures of intelligence is limited. The Vineland Adaptive Behavior Scales--Survey Form, the Vineland Social Maturity Scale, and the mental scale of the Bayley Scales of Infant Development were administered to 44 infants referred for evaluation of developmental delay. The differences between means were compared and shared variance examined. The Vineland Adaptive Behavior Scales--Survey Form scores were significantly higher than those of the Vineland Social Maturity Scale and the Bayley Mental Development Index. No significant differences were found between the means of the Vineland Social Maturity Scale and the Bayley Scales of Infant Development--Mental Development Index. Correlations were .59 between the Bayley Index and scores on the Vineland--Survey Form and .72 between the Bayley Index and the Vineland Social Maturity Scale. Between versions of the Vineland scale r = .39. Implications for diagnosis and educational classification are discussed.

Developmental Disabilities↗
PubMed1982

In utero alcohol exposure and developmental delay of response inhibition.

Offspring of rats fed liquid alcohol diet during pregnancy exhibited age-related increased activity and deficits in passive avoidance learning and response perseveration which were not age-related. Alcohol-exposed offspring also elicited less maternal responsiveness from nontreated dams than did pair-fed controls. The results suggest that in utero alcohol exposure produces a developmental delay in ontogeny of response inhibition mechanisms underlying activity, but not passive avoidance learning or spontaneous alternation.

Alcohol Drinking↗
PubMed2005

Developmental delay at 12 months in children born extremely preterm.

AIM: To evaluate the feasibility and validity of a structured telephone interview to assess the development of children born extremely preterm. METHODS: The parents of 88 children born with a gestational age below 28 wk admitted to the neonatal intensive care unit (NICU) at Rigshospitalet, Copenhagen, were interviewed by telephone when their child was 1 y of age, corrected for preterm birth. A fully structured questionnaire on psychomotor function was used (Revised Prescreening Developmental Questionnaire (R-PDQ)). The parents of 30 children born at term without complications were interviewed for comparison. The interview was conducted by NICU staff. To validate the R-PDQ, parents of 22 children in the preterm group and parents of 19 children in the reference group conducted an Ages and Stages Questionnaire (ASQ) when their children had reached the age of 3-3(1/2) y. RESULTS: The R-PDQ was easy to use by staff and well accepted by parents. The mean score in the preterm group was 14.9+/-3.9 vs 17.7+/-2.7 in the term group (p<0.001). Three children had developmental scores below-2 SD. The R-PDQ score was associated with the ASQ score 2 y later. CONCLUSION: A structured questionnaire administrated by telephone is an alternative and usable tool for assessing neurodevelopmental deficit in children born extremely preterm. The mean developmental delay in the preterm group compared to the term group (about-1 SD) was close to expectations.

Child, Preschool↗
PubMedDate not supplied

Comparison of test of infant motor performance (TIMP) item responses among children with cerebral palsy, developmental delay, and typical development.

Impairment of children's motor performance might limit participation in family and community life. Therefore, identification of motor impairments is important in support of early intervention to prevent limitations in children's occupational performance. The purpose of this paper is to examine item performance on the Test of Infant Motor Performance (TIMP) in a group of infants later diagnosed as having cerebral palsy (CP), developmental delay, or typical development. Particularly, we aimed to determine if specific TIMP items have a strong relationship at particular ages with the presence of a later diagnosis of CP. Exploratory graphic representation and Rasch differential item analysis were employed to investigate each individual TIMP item's behavior in discriminating among children with different outcomes. Items discriminating among the three outcome groups included: hand to mouth, neck control, rolling, and pull to sit items, particularly at ages term, 9 weeks, and 12-13 weeks corrected age. Children with CP presented "advanced" performance in items using extension patterns and slow development or regression in items requiring antigravity and balanced used of flexion-extension patterns of muscle activity.

Cerebral Palsy↗
PubMed2003

Evaluating Medicaid HMOs when encounter data are missing: case of developmentally delayed children.

In evaluating Medicaid Health Maintenance Organizations (HMOs), crucial information regarding severity of illness of patients is often missing--in part because encounter data are not available. If we assume that patients are either in the HMO or in fee-for-service (FFS) plans (i.e., no in or out migration); then severity of HMO patients can be deduced from encounters of FFS patients. We applied this approach to effectiveness of HMO services for developmentally delayed children. Data supported the assumption of a closed system. Data also showed that over 12 months, severity of FFS patients declined. Therefore, we inferred that the HMO was attracting sicker patients. The HMO was paid less than FFS plan, despite the fact that it attracted sicker patients.

Child↗