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We report a family with apparent autosomal dominant inheritance of scalp defects, polythelia, microcephaly, and developmental delay. A review of the literature revealed no previous report of this combination of anomalies. We conclude that these patients have a new autosomal dominant syndrome.
The current study is the first to test the hypotheses that children with developmental delays use more frequent language and more diverse vocabulary in routines than in nonroutines. The 19 child participants were in Brown's (1973) first stage of language learning. Using a novel method of measuring routines, 18 of the parents identified at least one routine in a videotaped play session with their children. Results support both hypotheses and provide descriptive information about the content of the routines displayed by the parents and children in the free-play context. The importance of replicating the findings in the context of an experimental design before concluding that "routineness" caused the children to talk more often and with more diverse vocabulary was emphasized.
With the recent mandate for early intervention services, the pediatrician is more involved than ever in the identification and evaluation of children with developmental disabilities. Developmental surveillance at routine visits and listening to parental concerns are crucial in the early diagnosis of developmental delay so that therapeutic interventions can be provided at a time when there is a good chance of decreasing disability and family stress. Medical evaluations and consultations must be prudent and based on a thorough history and physical. The pediatrician must have the knowledge and skills to coordinate medical care and to counsel and provide support to the child and family as they receive habilitative services and come to terms with the developmental diagnoses.
There is a standard recommendation that chromosomes be obtained in any patient who presents with developmental delay (DD) or mental retardation (MR) regardless of whether or not they have dysmorphic features. Increasingly, if patients are physically well-formed, the option to perform a karyotype is questioned because of the presumed low yield of a chromosomal abnormality. We hypothesize that patients with DD/MR who are non-dysmorphic do not have abnormal chromosomes at a rate high enough to warrant obtaining a karyotype on all patients in this population. A retrospective analysis of patients with DD/MR who were non-dysmorphic was performed. The total number of subjects was 134. Of these, 120 patients were recommended to have high-resolution chromosomes performed, among whom seven were lost to follow-up. In the remaining 113 patients, all had normal karyotypes. Three subjects were found to have fragile X syndrome, accounting for 3% of the males. One subject had a pathological mutation in MECP2. Our yield of chromosome analysis in non-dysmorphic patients with DD/MR is less than that previously described. The role of array-comparative genomic hybridization (array-CGH) as an auxiliary or alternative procedure in this patient population will be discussed.
OBJECTIVES: To determine the proportion of urine amino and organic acids screening tests (UMS) undertaken for patients referred with developmental delay or intellectual disability (DD/ID), and within the group with DD/ID, to determine the diagnostic yield, the proportion of diagnoses with a therapy and the associated recurrence risks. METHODS: A retrospective review of request forms and results of UMS, in individuals older than 28 days, referred to the Women's and Children's Hospital, North Adelaide, between 1 January 1992 and 31 December 1998 was carried out. Urine was analysed by ion exchange chromatography (amino acids), gas chromatography/mass spectrometry (organic acids), colorimetric assay (orotic acid) and stable isotope-dilution mass spectrometry (trimethylamine). RESULTS: A total of 3316 samples were received, 1447 being from patients with DD/ID. A diagnosis was determined for 1.8% of all referrals. For patients with DD/ID, the diagnostic yield was 1.1%, with a similar yield for isolated DD/ID and DD/ID with other features (9/828 vs 7/619; chi2 = 0.006; P = 0.93). Specific therapies were available for 69% of diagnoses associated with DD/ID and 87.5% had known Mendelian or mitochondrial inheritance. CONCLUSION: Urine metabolic screening is an important part of the evaluation of children with DD/ID as it can enable families to make reproductive decisions and children to receive appropriate therapy early.
PURPOSE: To evaluate the efficacy of a 6-month course of responsivity education/prelinguistic milieu teaching (RE/PMT) for children with developmental delay and RE/PMT's effects on parenting stress in a randomized clinical trial. METHOD: Fifty-one children, age 24-33 months, with no more than 10 expressive words or signs, were randomly assigned to treatment/no-treatment groups. Thirteen children in each group had a diagnosis of Down syndrome. RESULTS: In 1 of 2 multivariate comparisons, the RE/PMT group exhibited superior gains in communication compared with the no-treatment group. The treatment effect for overall use of intentional communication acts in the child-examiner context was significant (d = .68, 95% confidence interval = 0.12-1.24). There were no effects on child outcomes due to presence or absence of Down syndrome. RE/PMT led to modest increases in recoding of child acts by parents of children who did not have Down syndrome. There were no effects on parenting stress associated with the intervention or the presence or absence of Down syndrome. CONCLUSIONS: RE/PMT may be applied clinically with the expectation of medium-size effects on the child's rate of intentional communication acts after 6 months of intervention. The approach warrants further investigation with modifications, such as delivery at higher intensity levels.
A 2 x 2 factorial design was used to examine the effects of child age (20 and 40 months) and level of developmental delay (mild and severe) on requests for consultations and referrals. Significant main effects for age and level of delay were found. Requests for education and psychological consultations were in the low to moderate range, and one fourth of the respondents were not likely to make a school referral. Implications for future research and continuing medical education were discussed.
We report on a child with postnatal overgrowth, noted from 3 months of age, associated with severe developmental delay and refractory seizures. The patient was conceived using in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI). The patient's features do not resemble any reported overgrowth syndromes reported so far. We propose that this is a previously unrecognized disorder. The potential role of ICSI/IVF in the pathogenesis of this condition is unknown. No imprinting defect at chromosome 11p15 was identified.
The experience of having a sibling is common for most children. What happens to a child when a sibling is developmentally delayed or disabled? What can parents do to improve the adjustment of their nondelayed child?
Data from parents and young adults were collected as part of a 20-year follow-up of children with developmental delays who had been identified at age 3 years. The young adults and their parents provided information through questionnaires and personal interviews. Findings documented a broad range of outcomes, with some young adults leading independent and productive lives, whereas the majority were un- or underemployed, living with and financially dependent upon their families, and socially isolated. Three types of parent-young adult relationships were identified. For both parents and young adults, IQ was significantly and negatively related to perceived life satisfaction.
Monosomy of 18q12.3 has been reported in only 16 cases, in one as a mosaic with a normal cell line. Abnormal behaviour, developmental delay, normal measurements, and minor facial anomalies including ptosis, bilateral epicanthus, strabismus, short and slightly down-slanting palpebral fissures, and full cheeks are characteristic manifestations. We report on a 26-month-old girl with del(18)(q12.2q21.1) and typical phenotype. Microsatellite mediated haplotype analysis showed approximately 12 Mb deletion and demonstrated that the deletion was most likely formed during paternal meiosis by a rearrangement between the grandpaternal sister chromatids.
The discovery of new cytogenetic and molecular genetic techniques and principles has been explosive in recent years. A secure diagnosis based on molecular evidence has become possible for many syndromes previously only clinically defined, which has helped enormously in predicting children's developmental progress, in allowing knowledgeable surveillance for potential associated health problems, in genetic counseling, and in prenatal diagnosis. This article reviews several of the most significant recently described cytogenetic and molecular genetic principles and techniques in relation to the child who presents with developmental delay.
Child-driven and transactional models of child-family interactions were tested with 80 children who had developmental delays and their families. Children's cognitive competence, personal-social competence, behavior and communication "hassle," and family accommodations to the children were assessed at child ages 3, 7, and 11. Accommodations were summarized as internal (within the family) and external (use of outside resources) intensity and types. Results indicate that the longitudinal relationships between children's cognitive competence, personal-social competence, behavior and communication hassle, and family accommodations are best explained by a child-driven model. Implications for early intervention and for the need to consider both child and family outcomes are discussed.
We present two female children with a distinctive pattern of malformation, including persistent thrombocytopenia, Robin sequence, agenesis of the corpus callosum, distinctive facies and developmental delay. We feel that these findings constitute a heretofore undescribed syndrome. Patient 1 presented during the newborn period with thrombocytopenia, Robin cleft, distinctive facies and agencies of the corpus callosum. Her thrombocytopenia has been persistent. Bone marrow aspirate showed adequate megakaryocytes. On follow-up she has mental retardation, microcephaly, growth delay and enamel hypoplasia. Patient 2 was also noted during the newborn period to have the Robin sequence, agenesis of the corpus callosum, a similar face to case 1 and persistent thrombocytopenia. Bone marrow aspirate showed decreased megakaryocytes. She also had delayed development, short stature, microcephaly and enamel hypoplasia. The combination of the Robin cleft, congenital onset of persistent thrombocytopenia and enamel hypoplasia appears particularly unique in combination. The aetiopathogenesis of this condition is unknown.
We present a girl with ring chromosome 16. Clinical abnormalities included developmental delay, short stature, and minor facial anomalies. Analysis of the glutamate-pyruvate transaminase (GPT) phenotype suggests the possible exclusion of the GPT locus expressed in erythrocytes (GPT) from the very distal p13 region of chromosome 16.
A unique immune deficiency in a 24-month-old male characterized by a transient but protracted developmental delay in the B-cell lineage is reported. Significant deficiencies in the number of B cells in the blood, the concentrations of immunoglobulins in the serum, and the titers of antibodies to T-dependent and T-independent antigens resolved spontaneously by the age of 39 months in a sequence that duplicated the normal development of the B-cell lineage: blood B cells followed by immunoglobulin M (IgM), IgG, IgA, and specific IgG antibodies to T-independent antigens (pneumococcal polysaccharides). Because of the sequence of recovery, the disorder could have been confused with other defects in humoral immunity, depending on when in the course of disease immunologic studies were conducted. Investigations of X-chromosome polymorphisms suggested that the disorder was not X linked in that the mother appeared to have identical X chromosomes. An autosomal recessive disorder involving a gene that controls B-cell development and maturation seems more likely. In summary, this case appears to be a novel protracted delay in the development of the B-cell lineage, possibly due to an autosomal recessive genetic defect.
The Rata villa assessment and training unit is intended to provide a short term community service for the evaluation and treatment of developmentally delayed children who are becoming difficult to manage at home or in community educational or training facilities. Since it opened the unit has dealt with 102 first admissions with a wide variety of problems, ranging in age from two to 15 years and varying in intellectual level from normal intelligence to profoundly retarded. In 71 percent of these cases permanent improvements have been made in at least one of the problem areas identified by the child's parents on admission. The treatment programmes are considered to have contributed to maintaining the child in the community as only 28 percent of those treated are currently long term residents in psychopaedic hospitals.
We report on 2 brothers with short stature, microcephaly, myopia, retarded osseous maturation, severe developmental delay, and minor anomalies including temporal narrowing, periorbital fullness, full cheeks in infancy, and protruding lower lip. Both brothers and their parents had normal chromosomes. Fluorescence in situ hybridization with probes from all (sub-)telomeric chromosomal regions excluded a structural rearrangement involving telomeric segments. Because the pattern of congenital abnormalities is not like that of any well-known multiple congenital anomaly/mental retardation syndrome, we suggest a previously undescribed syndrome of autosomal recessive or X-linked inheritance.