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Joan Overhauser - One of the best experts on this subject based on the ideXlab platform.
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growth charts for Cri Du Chat syndrome an international collaborative study
American Journal of Medical Genetics, 2000Co-Authors: Catrinel R Marinescu, Paola Cerruti Mainardi, Margaret S R Collins, Martine Kouahou, Gabriella Coucourde, Guido Pastore, Jill Eatonevans, Joan OverhauserAbstract:Low birth weight and slow growth are frequently observed in the patients with Cri-Du-Chat syndrome. To provide a growth reference standard for children with Cri-Du-Chat syndrome, syndrome-specific growth charts have been developed from a combination of cross-sectional and longitudinal measurements on 374 patients from North America, Italy, Australia, and the British Isles. The data were obtained from pediatric records, parent reporting, and personal examinations at national 5p- parent support group meetings in the U.S., Italy, U.K., and Australia. The growth curves include height and weight measurements for patients ages 0 to 18 years and head circumference measurements for patients ages 0 to 15 years. Birth weight was above the 5th percentile of general population in 50% of cases: mean weight 2.8 kg +/- 1.85 SD for males and 2.6 kg +/- 1.51 SD for females. Growth curve medians were usually at or below the 5th centile of reference populations throughout life. The median head circumference falls below the 2nd centile, and this change increases with age. The charts show that compared with the standard population, most children with Cri-Du-Chat syndrome are small at birth and as they grow most, but not all, have significant microcephaly and compromised weight for age, and to a lesser extent, compromised height for age. Am. J. Med. Genet. 94:153-162, 2000.
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hemizygosity of δ catenin ctnnd2 is associated with severe mental retardation in Cri Du Chat syndrome
Genomics, 2000Co-Authors: Miguel Medina, Catrinel R Marinescu, Joan OverhauserAbstract:δ-catenin is an adherens junction protein involved in cell motility and expressed early in neuronal development. It was discovered as an interactor with presenilin-1. The genomic structure of the human δ-catenin gene (Human Gene Nomenclature Committee-approved symbol CTNND2) was determined and mapped to 5p15.2. A deletion of this chromosomal region has been associated with the Cri-Du-Chat syndrome (CDCS), a segmental aneusomy syndrome of 5p that is associated with an unusual high-pitched cry at birth, facial dysmorphology, poor growth, and severe mental retardation. δ-catenin maps to a specific region in 5p15.2 that has been implicated in the mental retardation phenotype. The breakpoints in patients with 5p terminal deletions were characterized with respect to the severity of mental retardation and the physical location of the δ-catenin gene. A strong correlation was found between the hemizygous loss of δ-catenin and severe mental retardation. These findings and the properties of δ-catenin as a neuronal-specific protein, expressed early in development and involved in cell motility, support its role in the mental retardation of CDCS when present in only one copy.
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fish analysis of terminal deletions in patients diagnosed with Cri Du Chat syndrome
Clinical Genetics, 1999Co-Authors: R C Marinescu, E I Johnson, D Grady, X N Chen, Joan OverhauserAbstract:Most patients with Cri-Du-Chat syndrome have a de novo deletion of the short arm of chromosome 5 (5p). In order to perform extensive phenotype-genotype correlation studies, a relatively easy method for the precise determination of the extent of a patient's deletion is essential. Towards this purpose, a set of minimally overlapping YAC clones that span 5p was identified. A BAC that maps at or near the 5p telomere was also used. A total of 110 patients with previously determined de novo terminal deletions by standard cytogenetic approaches were reanalyzed using the YAC clones and fluorescent in situ hybridization (FISH). Of the 110 samples, 4 patients were determined to have interstitial deletions, 1 patient had an unbalanced translocation, and no deletion could be detected in 2 patients. The FISH results in the 7 patients affect the clinical prognosis for some of these patients. These results demonstrate the need for supplementing standard cytogenetics with FISH analysis when an abnormal karyotype is detected.
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characterization of a complex chromosomal rearrangement in a patient with a typical catlike cry and no other clinical findings of Cri Du Chat syndrome
American Journal of Medical Genetics, 1999Co-Authors: C Sreekantaiah, D Kronn, R C Marinescu, B Goldin, Joan OverhauserAbstract:We report on the clinical, cytogenetic, and molecular cytogenetic findings in a 4-year-old girl who was evaluated for developmental delay and a catlike cry from birth. No other findings of Cri-Du-Chat syndrome were present. Karyotype analysis demonstrated a de novo deletion and inverted Duplication of the 5p region. The abnormality was confirmed and further defined by detailed FISH analysis using cosmid and lambda phage clones previously mapped to distinct regions of 5p. The analyses documented deletion of 5p15.3-->pter and an inverted Duplication of 5p14-->5p15.3. The deleted segment on 5p contains the region implicated in the isolated catlike cry feature of the Cri-Du-Chat syndrome, confirming that the genes involved in the catlike cry map to the distal end of 5p. Except for the catlike cry and possibly the developmental delay that may be Due to the deletion of 5p, the Duplication of 5p14-->5p15.3 in this patient did not present with additional anomalies. This study further demonstrates the usefulness of the molecular cytogenetic approach for characterizing complex chromosome rearrangements. Such analyses of patients with an isolated catlike cry can avoid an incorrect diagnosis of the Cri-Du-Chat syndrome, which is associated with a more severe prognosis.
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no relationship between the size of the deletion and the level of developmental delay in Cri Du Chat syndrome
American Journal of Medical Genetics, 1999Co-Authors: Catrinel R Marinescu, Elisabeth M Dykens, Elizabeth I Johnson, Robert M Hodapp, Joan OverhauserAbstract:Molecular cytogenetic and developmental assessment was performed on 50 indiviDuals with Cri-Du-Chat syndrome. Fluorescent in situ hybridization analysis was used to confirm a terminal deletion karyotype and map more precisely the location of the deletion breakpoint. We identified terminal deletion breakpoints mapping from 5p15.2 to 5p13. Developmental assessment was performed using the Vineland Adaptive Behavior Scales test. Composite Vineland Scores ranged from 20-75. In general, the communication score was higher than the composite score. Comparison of the size of the deletion with the composite Vineland score, as well as the Vineland Communication score, demonstrated that there was no correlation between the size of the deletion and the level of developmental delay. These results demonstrate that patients with Cri-Du-Chat syndrome show high variability in the level of developmental achievement.
Adam J Shapiro - One of the best experts on this subject based on the ideXlab platform.
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the prevalence of the defining features of primary ciliary dyskinesia within a Cri Du Chat syndrome cohort
Pediatric Pulmonology, 2018Co-Authors: Catherine D Sanders, Kay C Chao, Maimoona A Zariwala, Margaret W Leigh, Karen E Weck, Michael R. Knowles, Ian King, Whitney E Wolf, Dennis J Campbell, Adam J ShapiroAbstract:Background Primary ciliary dyskinesia (PCD) and Cri Du Chat syndrome (CdCS) are distinct disorders that can co-occur Due to a common genetic locus on chromosome 5p. Chronic respiratory symptoms associated with PCD can occur in CdCS and are typically attributed to hypotonia, dysphagia, and aspiration. The prevalence of PCD among indiviDuals with CdCS is not known. Methods An online survey assessing common features of PCD was distributed to members of the 5P Minus Society, a Cri Du Chat patient advocacy group. Respondents who met Criteria for elevated risk of PCD (at least 3 symptoms or other features highly suggestive of PCD) were offered PCD genetic testing. Results For the 123 respondents (median age 10.1 years with IQR 5.5-17.3 years; from 33 U.S. states and 10 other countries) chronic respiratory symptoms associated with PCD were prevalent, including unexplained neonatal respiratory distress, year-round nasal congestion beginning in infancy, and year-round, wet cough beginning in infancy in 35%, 32%, and 20% of respondents, respectively. Fifteen respondents (12%) met Criteria for elevated risk for PCD and completed genetic analysis; however, none were diagnostic for PCD. A PCD clinical center evaluated an additional subject with CdCS who met Criteria for likely PCD and had negative genetics, but had diagnostic electron microscopy of the respiratory cilia (missing outer dynein arms). Conclusion Clinicians should be aware of the genetic connection between CdCS and PCD. Non-informative genetic testing does not rule out PCD. CdCS patients with chronic respiratory symptoms may benefit from referral to specialized PCD diagnostic centers.
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Cri Du Chat syndrome and primary ciliary dyskinesia a common genetic cause on chromosome 5p
The Journal of Pediatrics, 2014Co-Authors: Adam J Shapiro, Kay C Chao, Margaret W Leigh, Anders O H Nygren, Karen E Weck, Margaret Rosenfeld, Michael R. Knowles, Maimoona A ZariwalaAbstract:Cri Du Chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary symptoms or organ laterality defects in CdCS should prompt an evaluation for PCD.
Kim Cornish - One of the best experts on this subject based on the ideXlab platform.
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association between fatigue and autistic symptoms in children with Cri Du Chat syndrome
Ajidd-american Journal on Intellectual and Developmental Disabilities, 2011Co-Authors: Anthony Claro, Kim Cornish, Reut GruberAbstract:Abstract In the current study, the authors examined whether the fatigue level of children diagnosed with Cri Du Chat syndrome was associated with the expression of autistic symptoms. Sixty-nine children with Cri Du Chat syndrome were compared with 47 children with moderate to severe intellectual disabilities who did not differ on intellectual severity. Participants were assessed using the Infant Sleep Questionnaire (J. M. B. Morrell, 1999) for fatigue-level rating and the Childhood Autism Rating Scale (E. Schopler, R. J. Reichler, & B. R. Renner, 1988) for autism-level rating. In support of the authors' hypothesis, results indicated that children who exhibited high levels of fatigue were more likely to express high levels of autistic symptoms. Contrary to the authors' hypothesis, children in the comparison group who exhibited high levels of fatigue conferred the greatest vulnerability to the expression of autistic symptoms.
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the neuropsychological profile of Cri Du Chat syndrome without significant learning disability
Developmental Medicine & Child Neurology, 2008Co-Authors: Kim CornishAbstract:The clinical picture typically associated with Cri Du Chat syndrome is one of profound intellectual impairment, severe motor delay and increased morbidity. In contrast to this picture, the present case report desCribes the cognitive and behavioural profile of a young female with Cri Du Chat syndrome who displays no evidence of severe learning disability. Cognitive performance indicated good verbal skills with specific strengths on those tasks that require the ability to store and retrieve verbal information in comparison to poor non-verbal, spatial skills and weaknesses on those tasks that require multi-step manipulation of spatial stimuli and the ability to form whole percepts from fragmentary parts. The finding underlies the importance of assessing the wide range of cognitive potential of indiviDuals with Cri Du Chat syndrome.
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prevalence of autism spectrum phenomenology in cornelia de lange and Cri Du Chat syndromes
American Journal on Mental Retardation, 2008Co-Authors: J Moss, Chris Oliver, Katy Berg, Gurmeash Kaur, Lesley Jephcott, Kim CornishAbstract:Abstract Autism spectrum disorder characteristics have not been evaluated in Cornelia de Lange and Cri Du Chat syndromes using robust assessments. The Autism Diagnostic Observation ScheDule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri Du Chat syndrome (M ages 12.4 [SD = 3.8] and 10.3 years [SD = 3.6], respectively). Twenty-one participants with Cornelia de Lange syndrome (61.8%) scored above the autism cut-off on the Autism Diagnostic Observation ScheDule compared to 9 with Cri Du Chat syndrome (39.2%). Prevalence of autism spectrum disorder characteristics is heightened in Cornelia de Lange syndrome. The profile of characteristics is atypical to that of idiopathic autism.
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Cri Du Chat syndrome genotype phenotype correlations and recommendations for clinical management
Developmental Medicine & Child Neurology, 2002Co-Authors: Kim Cornish, David BrambleAbstract:The past decade has seen unparalleled advances in the application of molecular genetic methods to the study of neurodevelopmental disorder, including disorders with significant learning disability. Alongside this development there has been a substantial growth in the number of studies attempting to link genomic changes (deletion, reDuplication, or silencing of genes) to cognitive and behaviour outcomes: in essence to link genotype to phenotype. A main benefit of this approach is that it permits an insight into the range of strengths and difficulties that can be associated with a disorder which in turn can guide the general management of children and aDults with genetic causes of learning disabilities. One such disorder that has attracted attention in recent years is Cri Du Chat syndrome (CDC), first desCribed by the French paediatrician Lejeune in 1963 who coined the term ‘Cri Du Chat’ (‘cry of the cat’). Indeed, the hallmark cat cry is still regarded as an important early clinical diagnostic feature of this syndrome in some but not all affected newborn infants. Further research in the 1960s and 70s resulted in the publication of numerous case reports and a triad of clinical features became associated with CDC: the cat-like cry, dysmorphic facies, and profound global learning disability. It is now recognized that this triad does not present in all patients. Additional clinical features were also cited as being significantly over-represented in the condition. These included increased early childhood morbidity, restrictive language skills, and severely delayed psychomotor development. This somewhat pessimistic portrayal of CDC was challenged in the 1980s by the findings obtained from population-based studies and questioned more intensely in the 1990s as advances in molecular genetics allowed greater clarification of the syndrome's genotype and more detailed cognitive and behavioural studies demonstrated wider variability within the phenotype.
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a survey of the prevalence of stereotypy self injury and aggression in children and young aDults with Cri Du Chat syndrome
Journal of Intellectual Disability Research, 2002Co-Authors: M Ross S Collins, Kim CornishAbstract:The aim of the present study was to determine the prevalence and frequency of stereotypy, self-injurious behaviour (SIB), and aggression in children and aDults with Cri Du Chat syndrome (CCS), and to investigate the relationship between SIB, aggressive behaviour and stereotypy in these indiviDuals. Sixty-six families of children and aDults diagnosed with CCS completed the Behaviour Problems Inventory. Additional information relating to gender, chronological age, type of school/post-school occupation and medication was also included in the survey. Stereotyped behaviour was reported for 82% of subjects, more than half the sample displaying it on a daily basis. The occurrence percentage of 15 topographies of SIB suggested that head banging, hitting the head against body parts, self-biting and rumination are the most frequently occurring behaviours in CCS. Aggressive behaviour was reported for 88%, with a statistically significant negative correlation between age and the number of aggressive behaviours reported. The present findings suggest that specific types of stereotypy and SIB are observed frequently in CCS.
Maimoona A Zariwala - One of the best experts on this subject based on the ideXlab platform.
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the prevalence of the defining features of primary ciliary dyskinesia within a Cri Du Chat syndrome cohort
Pediatric Pulmonology, 2018Co-Authors: Catherine D Sanders, Kay C Chao, Maimoona A Zariwala, Margaret W Leigh, Karen E Weck, Michael R. Knowles, Ian King, Whitney E Wolf, Dennis J Campbell, Adam J ShapiroAbstract:Background Primary ciliary dyskinesia (PCD) and Cri Du Chat syndrome (CdCS) are distinct disorders that can co-occur Due to a common genetic locus on chromosome 5p. Chronic respiratory symptoms associated with PCD can occur in CdCS and are typically attributed to hypotonia, dysphagia, and aspiration. The prevalence of PCD among indiviDuals with CdCS is not known. Methods An online survey assessing common features of PCD was distributed to members of the 5P Minus Society, a Cri Du Chat patient advocacy group. Respondents who met Criteria for elevated risk of PCD (at least 3 symptoms or other features highly suggestive of PCD) were offered PCD genetic testing. Results For the 123 respondents (median age 10.1 years with IQR 5.5-17.3 years; from 33 U.S. states and 10 other countries) chronic respiratory symptoms associated with PCD were prevalent, including unexplained neonatal respiratory distress, year-round nasal congestion beginning in infancy, and year-round, wet cough beginning in infancy in 35%, 32%, and 20% of respondents, respectively. Fifteen respondents (12%) met Criteria for elevated risk for PCD and completed genetic analysis; however, none were diagnostic for PCD. A PCD clinical center evaluated an additional subject with CdCS who met Criteria for likely PCD and had negative genetics, but had diagnostic electron microscopy of the respiratory cilia (missing outer dynein arms). Conclusion Clinicians should be aware of the genetic connection between CdCS and PCD. Non-informative genetic testing does not rule out PCD. CdCS patients with chronic respiratory symptoms may benefit from referral to specialized PCD diagnostic centers.
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Cri Du Chat syndrome and primary ciliary dyskinesia a common genetic cause on chromosome 5p
The Journal of Pediatrics, 2014Co-Authors: Adam J Shapiro, Kay C Chao, Margaret W Leigh, Anders O H Nygren, Karen E Weck, Margaret Rosenfeld, Michael R. Knowles, Maimoona A ZariwalaAbstract:Cri Du Chat syndrome (CdCS) and primary ciliary dyskinesia (PCD) are rare diseases that present with frequent respiratory symptoms. PCD can be caused by hemizygous DNAH5 mutation in combination with a 5p segmental deletion attributable to CdCS on the opposite chromosome. Chronic oto-sino-pulmonary symptoms or organ laterality defects in CdCS should prompt an evaluation for PCD.
John J Wasmuth - One of the best experts on this subject based on the ideXlab platform.
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a high resolution physical and transCript map of the Cri Du Chat region of human chromosome 5p
Genome Research, 1997Co-Authors: Deanna M Church, Rita Shiang, Julie Yang, Maureen Bocian, John J WasmuthAbstract:A high-resolution physical and transCription map has been generated of a 3.5-Mb region of 5p15.2 that is associated with the Cri Du Chat (CDC) syndrome. Utilizing a variety of resources including a natural deletion panel, a chromosome specific radiation hybrid panel, and YAC, PAC, and BAC genomic clones we have ordered >60 STSs within this region. Approximately 45% of these STSs were obtained from publicly available whole genome maps, thus allowing for integration of this map with currently available resources. Thirteen of these markers were ESTs. In addition, >70 exon trapped proDucts have been mapped on the natural deletion panel and bacterial clone resource. The combination of these resources has allowed for the identification of 17 transCripts within this region, all of which represent candidate genes for CDC. Further characterization of the genomic contig also revealed that this region of 5p15 contains a large number of repetitive elements. [The sequence data desCribed in this paper have been submitted to GenBank under accession nos. G31374‐G31412, B07604‐B07657. On-line supplementary material concerning markers used, primers, PCR proDuct sizes, and annealing conditions is available at http://www.cshl.org/gr.]
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molecular and phenotypic mapping of the short arm of chromosome 5 sublocalization of the Critical region for the Cri Du Chat syndrome
Human Molecular Genetics, 1994Co-Authors: Joan Overhauser, Katherine Rojas, Xlaogu Huang, Meryl Gersh, Wesley Wilson, Jeanette Mcmahon, Ulla Bengtsson, Marvin Meyer, John J WasmuthAbstract:Forty-nine indiviDuals have been identified with deletions or translocations involving the short arm of chromosome 5. While most display the classical phenotype of the Cri-Du-Chat syndrome, several of the patients do not have the syndrome or have only a subset of the clinical features. Somatic cell hybrids containing the deleted chromosome 5 were derived from each patient. Each somatic cell hybrid was analyzed at the DNA level using 136 chromosome 5p-specific DNA fragments. It was possible to unambiguously order most of the chromosomal breakpoints present in the somatic cell hybrids based on the hybridization patterns of Southern blots. Further comparisons between the deletions present in the patients and their clinical features identified several chromosomal regions that were involved in specific clinical features. A Critical chromosomal region involved the high-pitched cry mapped to 5p15.3, while the chromosomal region involved in the remaining features of the Cri-Du-Chat syndrome mapped to a small region within 5p15.2. Deletions that did not include these two chromosomal regions presented varying clinical phenotypes from severe mental retardation and microcephaly to a clinically normal phenotype. These results demonstrate the need for careful characterization of a 5p deletion in prenatal cases before clinical predictions are made.
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molecular and phenotypic mapping of the short arm of chromosome 5 sublocalization of the Critical region for the Cri Du Chat syndrome
Human Molecular Genetics, 1994Co-Authors: Joan Overhauser, Katherine Rojas, Xlaogu Huang, Meryl Gersh, Wesley Wilson, Jeanette Mcmahon, Ulla Bengtsson, Marvin Meyer, John J WasmuthAbstract:: Forty-nine indiviDuals have been identified with deletions or translocations involving the short arm of chromosome 5. While most display the classical phenotype of the Cri-Du-Chat syndrome, several of the patients do not have the syndrome or have only a subset of the clinical features. Somatic cell hybrids containing the deleted chromosome 5 were derived from each patient. Each somatic cell hybrid was analyzed at the DNA level using 136 chromosome 5p-specific DNA fragments. It was possible to unambiguously order most of the chromosomal breakpoints present in the somatic cell hybrids based on the hybridization patterns of Southern blots. Further comparisons between the deletions present in the patients and their clinical features identified several chromosomal regions that were involved in specific clinical features. A Critical chromosomal region involved the high-pitched cry mapped to 5p15.3, while the chromosomal region involved in the remaining features of the Cri-Du-Chat syndrome mapped to a small region within 5p15.2. Deletions that did not include these two chromosomal regions presented varying clinical phenotypes from severe mental retardation and microcephaly to a clinically normal phenotype. These results demonstrate the need for careful characterization of a 5p deletion in prenatal cases before clinical predictions are made.