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PubMed2001

A new autosomal recessive syndrome. Early onset of pancytopenia, distinct facial features, growth retardation and developmental delay.

The association of dysmorphic features and failure of one or more bone marrow cell lines is well known. Examples are Fanconi's anemia and Diamond-Blackfan anemia. This report describes 3 similarly affected children from consanguineous parents, all showing low birth weight, severe growth retardation, distinct facial features, microcephaly, mental retardation and onset of severe pancytopenia in infancy without increased chromosomal breakage. We conclude that these cases represent a new familial autosomal recessive bone marrow failure syndrome.

Age of Onset↗

PubMed1991

Growth faltering and developmental delay in children with PEM.

Anthropometric measurements, Somatic Quotient (SQ), Development Quotient (DQ), Motor Quotient (MoQ) and Mental Quotient (MeQ) in 136 children in the age group 1-24 months with varying degrees of protein energy malnutrition (PEM) were compared with an equal number of comparable well nourished children. There was a progressive reduction in SQ, DQ, MoQ and MeQ as the degree of PEM advanced. There was a direct linear correlation between SQ and DQ and between height and DQ in 4 degrees PEM. However, there was no direct correlation between head circumference and either DQ or MeQ.

Body Height↗

PubMed1995

Savant characteristics in a child with developmental delay and deletion in the short arm of chromosome 20.

The development outcome of a four-year-old boy with a deletion of the short arm of chromosome 20 is described. Despite a number of early medical problems, including infantile hypoglycemic convulsions secondary to growth hormone deficiency and delayed motor and language development, he has been reading (self-taught) since 2.5 years and currently has computer proficiency, and exceptional memory for maps and spatial locations, an extremely rich and active fantasy life, good diction, and an extensive spoken vocabulary. Neuropsychological evaluation revealed low-average intelligence with normal language, memory and attention functions, and impaired visuomotor and graphomotor ability and motor skills. He showed extremely advanced decoding and reading comprehension skills while mathematics, spelling and general knowledge abilities were average.

Achievement↗

PubMed1993

Interstitial deletion of chromosome 10, del(10) (q11.2q22.1) in a boy with developmental delay and multiple congenital anomalies.

We describe a 4-year-old boy with an interstitial deletion of the long arm of chromosome 10: del(10) (q11.2q22.1). Frontal bossing, hypertelorism, bright blue iris color, up-slanting palpebral fissures, a flat nasal bridge, a broad nose, apparently low-set ears, micrognathia, deep philtrum, and hypotonia were noted neonatally. A murmur was noted at age 5 1/2 months and surgical repair of subaortic stenosis was required at 4 years. At 4 years micrognathia was no longer evident, but the palate was high-arched. The pattern of abnormalities included postnatal-onset slow growth, short stature, mental retardation, and cardiac anomalies.

Abnormalities, Multiple↗

PubMed1992

Severe pre- and postnatal growth retardation, developmental delay with hypotonia and marked hypotrophy of the distal extremities, dental anomalies, and eczematous skin. A new autosomal recessive entity.

We report on three young children, two girls and one boy, with pre- and postnatal growth deficiency, hypotonia, psychomotor retardation with notably impaired speech development, hypotrophy of the distal extremities, small hands and feet, small and widely spaced teeth, eczematous skin, and, in two of them, a partial agenesis of the corpus callosum. To our knowledge this specific combination of features has not been reported before. Since the two girls are sisters and the boy is the product of a consanguineous marriage, the inheritance of this new syndrome appears to be autosomal recessive.

Abnormalities, Multiple↗

PubMed2005

Molecular cytogenetic characterization of a de novo supernumerary ring chromosome 7 resulting in partial trisomy, tetrasomy, and hexasomy in a child with dysmorphic signs, congenital heart defect, and developmental delay.

We report on a girl with mosaicism (65%) of a de novo supernumerary ring chromosome 7. The main clinical features were delayed psychomotor development, congenital heart defect, facial dysmorphisms, and long hands, fingers, feet and toes. Molecular cytogenetic analysis revealed that the ring chromosome was duplicated in 20% of the analyzed metaphases with marker chromosome and quadruplicated in 5% thereof. Uniparental disomy (UPD) of the two normal sister chromosomes 7 was excluded. This is, to our knowledge, the first report of a partial tetrasomy to hexasomy due to a ring chromosome 7. Additionally, the ring evolution could be reconstructed according to the FISH-results.

Abnormalities, Multiple↗

PubMed2003

Molecular cytogenetic analysis of a constitutional de novo interstitial deletion of chromosome 12p in a boy with developmental delay and congenital anomalies.

We describe the case of a 6-month-old boy with psychomotor retardation, craniofacial dysmorphism, cleft lip and palate, as well as hearing and visual impairment. Analysis of G-banded chromosomes of the propositus showed a de novo interstitial deletion of the short arm of chromosome 12, del(12)(p12.1p12.3). Molecular cytogenetic analysis with bacterial artificial chromosomes (BAC) clones was used to refine the extent of the deletion. The deleted segment encompasses about 12.5 Mb between markers D12S1832 and G62375. The phenotypic consequences of the deletion are discussed and compared with other cases of interstitial deletions of proximal chromosome 12p.

Abnormalities, Multiple↗

PubMedDate not supplied

American College of Medical Genetics guideline on the cytogenetic evaluation of the individual with developmental delay or mental retardation.

DISCLAIMER: This guideline is designed primarily as an educational resource for medical geneticists and other health care providers to help them provide quality medical genetic services. Adherence to this guideline does not necessarily assure a successful medical outcome. This guideline should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, the geneticist should apply his or her own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from this guideline.

Child↗

PubMed1997

Dysgraphia in children: lasting psychomotor deficiency or transient developmental delay?

A longitudinal design was applied to differentiate between normal variations of psychomotor development and lasting handwriting deficiency (dysgraphia). Sixteen primary school children were tested with writing tasks that were recorded on a computer-monitored'XY tablet. These tasks represented different modules of the handwriting model of Van Galen (1991). Dependent variables were spatial errors, movement time, movement dysfluencies, trajectory length, stroke curvature, and the degree of neuromotor noise in the movement velocity profiles. The latter variable was measured by means of Power Spectral Density Analysis of the movement velocity signal, which revealed that movements of poor writers were substantially more noisy than those of proficient writers, with a noise peak in the region of neuromotor tremor. At the same time, the poor writers were less accurate. It was concluded that control of spatial accuracy rather than allograph retrieval or size control is the discriminating feature in dysgraphic children. Moreover, poor writers do not catch up with their peers within the 1 year time span tested.

Agraphia↗

PubMedDate not supplied

[Developmental delay in children with iron deficiency anemia. Can this be reversed by iron therapy?].

OBJECTIVE: To compare development of 17 children aged 12 months with iron deficiency anaemia (IDA) and 18 controls without IDA after a 3-months follow-up period and iron therapy in the IDA group. SUBJECTS AND METHODS: Development of all children was evaluated using the Griffith's Scale. Data was collected on parent's social class and education, breast-feeding, number of siblings and clinical nutritional status. RESULTS: At 12 months children with IDA had significantly lower development scores--mean (sd)--than those without IDA: 112(5) vs. 121(7). At 15 months, after iron therapy, there were no significant differences between cases and controls. Non-IDA children showed significantly lower development scores at 15 months when compared with 12 months (121 vs 115). CONCLUSIONS: The study shows that iron therapy can revert some of the adverse effects in the development of children with IDA and therefore both IDA prevention and treatment can be justified.

Anemia, Iron-Deficiency↗

PubMed2003

Growth retardation, developmental delay, distinctive face, multiple endocrine abnormalities, and adenylyl cyclase dysfunction: a new syndrome?

We report on a 17-year-old male with severe pre- and postnatal growth retardation, craniosynostosis, distinctive facial features, acanthosis nigricans, deafness, mental retardation and progressive multi-organ involvement, particularly of the endocrine system, including hypothyroidism, hypogonadism, transitory hypoparathyroidism, and insulin resistance. In order to find a common mechanism explaining these multiple abnormalities, we searched for a possible defect in the signal transduction pathways from membrane to nucleus involving G-protein coupled receptors (GPCR). Adenylyl cyclase activity was evaluated by assaying c-AMP in the patient's cultured fibroblasts stimulated with several drugs and toxins acting on different effectors upstream of adenylyl cyclase. The preliminary results indicate a reduced cAMP accumulation in the patient, neither caused by constitutive activation of Gi nor inhibition of Gs signaling, and probably resulting from an alteration in the adenylyl cyclase system. The differential diagnosis with syndromes showing common clinical features with our patient is discussed.

Adenylyl Cyclases↗

PubMed2000

Bullous ichthyosiform erythroderma, developmental delay, aortic and pulmonary stenosis in association with a FRA12A.

We present an 11-year-old female with bullous ichthyosiform erythroderma (BIE), learning disability, patent ductus arteriosus and mild stenosis of the aortic and pulmonary arteries. Chromosome analysis showed the expression of the rare folate-sensitive fragile site FRA12A at 12q13 in 8/20 (40%) of blood lymphocytes cultured in folate-deficient medium in the presence of trimethoprim. Her mother and maternal grandmother are phenotypically normal, but her mother shows expression of the same fragile site in 4/20 (20%) of cells cultured under the same conditions. Lymphocytes from the grandmother only showed expression of the fragile site when cultured in the presence of methotrexate in folate deficient medium. Interestingly, two genes (keratin 1 and keratin 2e) which are known to cause BIE map to 12q13. Molecular data is presented excluding three candidate (CCG)n repeats within keratin 1 gene. We present a review of previously reported FRA12A cases and discuss possible molecular explanations for the clinical findings in this patient.

Aortic Valve Stenosis↗

PubMed1993

Facilitating prelinguistic communication skills in young children with developmental delay.

Very little research has focused on the development and evaluation of intervention strategies designed to facilitate the acquisition of prelinguistic communication skills. We conducted two experiments to determine the effects of a milieu teaching approach on the acquisition and generalization of specific prelinguistic communication skills. In the first experiment, we utilized this intervention approach within a multiple baseline design to teach prelinguistic requesting, commenting, and vocal imitation to a single subject with Down syndrome and language delay. The results indicated that the intervention approach was effective at facilitating the child's use of these skills within the treatment setting. Therefore, in the second experiment we conducted a more comprehensive analysis of this approach with 4 subjects with mental retardation. Three of these subjects were taught to request, and 1 subject was taught both to request and to comment. The effects were experimentally evaluated with multiple baseline across subjects design. The results indicated that the intervention was effective in eliciting the intervention targets within the training setting for all 4 subjects. All 4 subjects showed evidence of generalization across stimulus materials, setting, teachers, and interaction style. There was also evidence of reciprocal effects on how classroom teachers in the generalization setting interacted with the subjects as a result of changes in the child's communication behavior.

Child, Preschool↗

PubMed1983

Pertussis: should we immunise neurologically disabled and developmentally delayed children?

A total of 400 children with neurological disorders were studied to ascertain whether they had been immunised against pertussis, the reasons for non-immunisation, and the "validity" of these reasons, as judged by interpretation of the recommendations of the Department of Health and Social Security. The results for this group were compared with those for a group of 400 aged matched controls. The study group had a significantly lower rate of immunisation than controls (p less than 0.01); rates for both groups fell sharply after 1975. A total of 192 study patients and 186 controls were not immunised. Those children with cerebral palsy had the lowest rate of immunisation (19%) and the highest number of valid reasons for non-immunisation (63%). Paediatricians apparently advised against immunisation in 61 (32%) of the index group but in only four (2%) of the controls. The risk of serious neurological handicap after pertussis immunisation is small and there is little evidence to support the view that underlying neurological disease predisposes a child to increased risk. The advice currently given by paediatricians may need to be reconsidered.

Attitude to Health↗

PubMed1999

A de novo complex chromosomal rearrangement with nine breakpoints characterized by FISH in a boy with mild mental retardation, developmental delay, short stature and microcephaly.

A de novo complex chromosome rearrangement (CCR) involving chromosomes 1, 6, 7, 15 and Y was detected in a boy with mental retardation, short stature, and microcephaly. Fluorescence in situ hybridisation (FISH) with whole chromosome painting libraries, band-specific cosmids and telomeric probes was essential for the characterisation of the rearrangement. The CCR was shown to be the result of at least nine chromosomal breaks and involved the alternating insertion of two segments of the short arm of chromosome 1 and two segments of the long arm of chromosome 6 into a novel derived chromosome 7. A non-reciprocal translocation between the distal short arm of the same chromosome 7 and the distal long arm of the Y chromosome was also found, together with a paracentric inversion of the long arm of chromosome 15. The only detectable imbalance was a deletion of the heterochromatic Yq telomeric region. FISH investigations in this case have revealed an additional complexity in this CCR, which has implications for reproductive risk assessment and genetic counselling.

Body Height↗

PubMed2004

Increased intensity of physical therapy for a child with gross motor developmental delay: a case report.

BACKGROUND AND PURPOSE: The intensity of physical therapy provided for children in early intervention (EI) programs may be influenced by a number of factors. In an individualized program, however, some children and families may benefit from an increased frequency of services. The purpose of this case report was to systematically document and describe an increase in physical therapy frequency over a 4-week time frame for a child receiving EI physical therapy services. CASE DESCRIPTION: The child was a 31-month-old girl with a diagnosis of 18p-, a chromosomal abnormality of the short arm of the 18th chromosome. Physical therapy services were increased from once every two weeks to four times a week for four weeks. OUTCOMES: Improvement was noted on the Gross Motor Function Measure And Goal Attainment Scaling. Her age-equivalent scores on the Peabody Gross Motor Scales did not change. DISCUSSION: A targeted increase in physical therapy frequency may be appropriate for some children receiving El services. Careful consideration of the readiness of a child, along with use of appropriate measure- ment tools, may be important for determining whether an increase is appropriate and successful.

Child, Preschool↗

PubMed2000

Functional significance of parasitism-induced suppression of juvenile hormone esterase activity in developmentally delayed Choristoneura fumiferana larvae.

The parasitic wasp Tranosema rostrale transmits a polydnavirus (PDV) to its host, Choristoneura fumiferana, during oviposition. Last-instar C. fumiferana larvae parasitized by T. rostrale early in the stadium fail to undergo metamorphosis, and injection of the wasp's calyx fluid (CxF; contains PDV) into healthy caterpillars induces a dose-dependent delay in initiation of metamorphosis (D. Doucet and M. Cusson, 1996, Entomol. Exp. Appl. 81, 21-30). In the present work, parasitization and injection of CxF (0.5 female equivalent) on the first day of the last stadium both prevented the rise in hemolymph 20-hydroxyecdysone (20HE) titer observed between day 4 and day 7 in control and saline-injected larvae. Similarly, juvenile hormone esterase (JHE) activity was depressed following parasitization or CxF injection, whereas control larvae displayed a peak on day 4. However, neither parasitism nor injection of CxF on day 1 prevented the JH-producing glands from turning off during the first half of the last stadium. Likewise, low but clearly detectable JH titers were observed in the first hours following the molt but very low titers, at or near the detection limit of our radioimmunoassay, were seen in both control and parasitized larvae on day 4. Prothoracic glands showed no apparent sign of degeneration 4 days after injection of CxF but had significantly smaller cells than saline-injected larvae 7 days postinjection. It is not clear whether this was a direct effect of T. rostrale PDV. Thus, disruption of spruce budworm metamorphosis by T. rostrale CxF involves depression of 20HE titers but is not associated with a measurable increase in the level of JH, as shown for some other host-parasitoid systems. In view of the latter observation, we put forward three hypotheses regarding the functional significance of the observed suppression of JHE activity in developmentally arrested C. fumiferana larvae.

Animals↗

PubMed2001

Direct duplication of 8p21.3-->p23.1: a cytogenetic anomaly associated with developmental delay without consistent clinical features.

We report six cases in two families and a sporadic case with a direct duplication of region 8p21.3-->23.1. In one family, the duplication started in the mother and was transmitted to one son and one daughter. In the second family, the father was mosaic for the anomaly that was transmitted to his two daughters. The cytogenetic anomaly was initially described as an 8p+ with banding analysis and then delineated with fluorescence in situ hybridization (FISH) using whole-chromosome 8 painting, 8p specific painting, and 8p or 8p/8q subtelomeric probes. Deletion was not detected in the subtelomeric region of the abnormal chromosome 8 examined in one family and in the sporadic case. The phenotypic picture varies from normal to moderate mental retardation in the affected individuals. No consistent minor anomalies or congenital defects were observed among these cases. After comparing the chromosome region involved in our cases with those in others having direct or inverted duplications of 8p, it is thought that the segment 8p21.1-->21.3 might be the critical region for an 8p duplication syndrome. The parental origin of the duplication does not seem to impact its clinical significance.

Chromosome Aberrations↗