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PubMed1999

No relationship between the size of the deletion and the level of developmental delay in cri-du-chat syndrome.

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.

Chromosome Deletion↗
PubMed2000

Cri du chat syndrome: changing phenotype in older patients.

The cri du chat syndrome or 5p deletion syndrome is a well-delineated clinical entity and has an incidence of 1/50,000 in newborn infants. A de novo deletion is present in 85% of the patients. Ten to 15% are familial cases with more than 90% due to a parental translocation and 5% due to an inversion of chromosome 5. Although the size of the deleted segment varies, the critical segment that is deleted in all patients appears to be 5p15.2. The clinical picture is well known in younger patients and includes the typical high-pitched cry, psychomotor retardation, microcephaly, growth rate failure, and craniofacial abnormalities including round face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia. With advancing age, the clinical picture becomes less striking. We present seven patients with 5p deletion syndrome, who were between age 16 and 47 years. Comparing their phenotype at several ages, a change of their phenotype was noted. Some of the clinical characteristics became more evident such as long face, macrostomia, and scoliosis. All patients were severely or profoundly mentally retarded except one patient who was mildly mentally retarded. The diagnosis was difficult to make in some of the patients who were first seen at an older age. In some of them, the craniofacial appearance resembled that seen in Angelman syndrome. Most patients had periods of destructive behavior, self mutilation, and aggression. The clinical diagnosis should be confirmed as soon as possible with cytogenetic investigation to provide specific support, prevention, and treatment of complications. Therefore, it is important to perform follow-up studies in young children to determine their outcome after infant-stimulation programs.

Adolescent↗
PubMed1990

Parental origin of chromosome 5 deletions in the cri-du-chat syndrome.

The parental origin of de novo deletions leading to the cri-du-chat syndrome has been investigated. Since the cri-du-chat syndrome is correlated with deletions involving the short arm of chromosome 5 (5p), DNA fragments known to detect restriction fragment length polymorphisms (RFLPs) along 5p were used to establish whether the paternal or the maternal chromosome had suffered the deletion. In cases where only one parent was available, somatic cell hybrids were used in conjunction with RFLP analysis to determine the origin of the deleted chromosome. The deleted chromosome 5 was of paternal origin in 20/25 cases.

Chromosome Deletion↗
PubMed1991

Phenotypic and phoniatric findings in mosaic cri du chat syndrome.

We report on mosaic 46,XY/46,XY,del(5)(p15) cri du chat syndrome. The clinical findings are compared with those compiled from a literature survey. A phoniatric evaluation was performed and compared with that of a cri du chat patient without mosaicism previously observed by the authors.

Chromosome Deletion↗
PubMed2006

A new genomic mechanism leading to cri-du-chat syndrome.

Using standard banding techniques, a within-arm intrachromosomal insertion can be mistakenly interpreted as a paracentric inversion. The need to correctly distinguish between these two types of chromosome rearrangements is emphasized by their different reproductive risks. For carriers of an intrachromosomal insertion, the empiric risk of having a liveborn child with a recombinant chromosome leading to a genetic imbalance is at least 15%, whereas the risk for a carrier of a paracentric inversion having a liveborn child with a recombinant chromosome leading to a genetic imbalance is thought to be practically negligible. We report a unique observation in which a paracentric inversion in the short arm of chromosome 5, 46,XX,inv(5)(p13.3p15.3), was identified in a women who had a daughter with an apparently terminal deletion in the distal short arm of chromosome 5, 46,XX,del(5)(p14.3), and the clinical diagnosis of cri-du-chat syndrome. We further characterized the rearrangement, and fluorescence in situ hybridization (FISH) and microsatellite analyses confirmed the paracentric inversion in the mother and showed the deletion in the daughter was maternal in origin. Therefore, this represents a case in which a confirmed paracentric inversion likely resulted in a viable terminal deletion. We propose a mechanism involving dicentric chromosome formation with subsequent breakage and telomere healing during meiosis. This illustrates a new genomic mechanism of chromosome rearrangement leading to cri-du-chat syndrome and should provide significant information for the medical management of patients with other terminal deletion syndromes.

Adult↗
PubMed1987

The development of the crying state during early infancy.

The development of the crying state was studied in 14 infants from 3 to 18 weeks in two situations: the infant alone and in interaction with the mother. A major transformation occurred in the crying state after 3 months, with the appearance of what is termed interrupted fussing, which consists of rapid alternations between fuss sounds and cooing vocalizations. This change was only found in the alone situation. The functional implications of this finding are discussed within the contexts of motor development and the behavioral state concept.

Child Development↗
PubMed1991

Airway pressures during crying: an index of respiratory muscle strength in infants with neuromuscular disease.

The purpose of this study was to assess the strength of the respiratory muscles in 12 infants with neuromuscular disease (age range: 0.17-2.08 years) by measuring the maximal inspiratory and expiratory airway pressures (Pimax and PEmax) during crying efforts. Infants were divided into two groups according to their respiratory history. Group A included six infants in stable condition without clinical evidence of respiratory abnormalities, and Group B included six infants with severe generalized muscle weakness and previous respiratory failure. The infants in Group B had been weaned from mechanical ventilation 6 to 14 days before being studied. For infants of Group A, Pimax and PEmax values were 77 +/- 28 cmH2O and 62 +/- 18 cmH2O, respectively; for infants of Group B, they were 38 +/- 8 cmH2O and 34 +/- 8 cmH2O, respectively. A positive correlation was found between PEmax and body mass percentile. No infant had hypercapnia at the time of the study, and Pao2 values in infants of Group B were significantly lower than those of Group A. These results suggest that measurements of airway pressures during crying may provide an index of respiratory muscle strength in infants with generalized muscle weakness.

Airway Resistance↗
PubMed1998

Molecular cloning and mapping of human semaphorin F from the Cri-du-chat candidate interval.

Cri-du-chat is a human contiguous gene deletion syndrome resulting from hemizygous deletions of chromosome 5p. Here we describe the isolation from within this interval of the human Semaphorin F (SEMAF) gene, a member of a family of proteins that has been implicated in axonal pathfinding. The human SEMAF gene covers at least 10% of the deleted region and defines a new class within this large gene family characterized by the presence of seven type 1 thrombospondin repeats. Prominent expression of murine semaphorin F (Semaf) was observed in the mouse brain, consistent with a role for semaphorin F as a signaling molecule that guides axons or migrating neuronal precursors during development. The known functions of semaphorins and the interesting pattern of expression for Semaf suggest that haploinsufficiency for SEMAF may disrupt normal brain development and might lead to some of the features of Cri-du-chat.

Amino Acid Sequence↗
PubMed2000

Hemizygosity of delta-catenin (CTNND2) is associated with severe mental retardation in cri-du-chat syndrome.

Delta-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 delta-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. delta-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 delta-catenin gene. A strong correlation was found between the hemizygous loss of delta-catenin and severe mental retardation. These findings and the properties of delta-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.

Armadillo Domain Proteins↗
PubMed1976

Partial monosomy 22 as the result of an unbalanced translocation 5:22 in a patient with cri-du-chat syndrome.

A 2-year-old boy with features suggestive of cri-du-chat syndrome had a complex karyotype: 45,XY,--22,5p--,t(5p:22q). Clinical symptoms were catlike cry in early infancy, severe mental and motor retardation, failure to thrive, hypertelorism, antimongoloid slant of the eyes, ptosis of the eyelids, epicanthus, micrognathia, dermatoglyphics abnormalities, and partial syndactyly between 2nd and 3rd toes.

Aneuploidy↗
PubMed1995

Estimation of formant frequencies in infant cry.

The formant frequencies (F1, F2, F3) of normal infant crying were measured using three different estimation techniques: sound spectrography, linear predictive coding (LPC), and power spectrum analysis. Results found all three techniques to be highly similar for estimation of F1. However, the techniques differed significantly in the estimation of F2 and F3. Power spectrum analysis tended to yield the highest F2 and F3 values, while LPC consistently provided the lowest F2 and F3 values. Based on the results of the study, serious questions arise whether formant estimates of cry are accurate or appropriate for use as a metric of infant vocal tract resonance.

Acoustics↗
PubMed1989

Microcomputer-aided studies of cry jitter uttered by newborn children based upon high-resolution analysis of fundamental frequencies.

The metrological and computational problems of detecting very weak variations in the frequencies of the fundamental tone are discussed from a signal processing point of view. An appropriate computer method of high-resolution analysis of the fundamental frequency is proposed. When applying high-resolution fundamental frequency analysis to cry signals, a jitter was found to exist in the fundamental frequency curve of both healthy babies and those suffering from cerebral disorders. A method is given to separate the jitter from the fundamental frequency curve. The separated jitter curve depends on the degree of slope of the fundamental frequency curve and shows differences between healthy and ill babies. For an objective evaluation of the jitter abnormities, an integral parameter--the so-called cry-jitter index--is proposed.

Algorithms↗
PubMed2003

Big girls don't cry: the effect of child witness demeanor on juror decisions in a child sexual abuse trial.

OBJECTIVE: This study investigated the effect of child witness demeanor (defined as crying) on mock jurors' decisions in a simulated First-Degree rape trial. METHOD: One hundred and thirty-three undergraduates serving in the role of mock jurors read a trial summary in which the primary independent variable was the demeanor of the alleged child victim (i.e., calm, teary, hysterical crying). In addition to reading the summary, participants viewed pencil drawings of the witnesses that were presented as "courtroom drawings." RESULTS: The results showed that the teary condition led to more guilty verdicts and a greater belief in the alleged victim than the other demeanor conditions. CONCLUSIONS: Findings from this study indicate that demeanor can impact the perception of a child who is an alleged sexual assault victim in court. However, it is not simply the case that any display of demeanor will lead to a positive outcome for the alleged victim. Instead, it appears that too little or too much emotion from the alleged child victim negatively affected credibility in the eyes of the mock jurors.

Age Factors↗
PubMed2006

The natural history of Cri du Chat Syndrome. A report from the Italian Register.

The aim of this report is to provide an update on the natural history of the Cri du Chat Syndrome by means of the Italian Register (I.R.). Two hundred twenty patients were diagnosed by standard cytogenetic methods and 112 of these were also characterised by molecular-cytogenetic investigation (FISH). FISH analysis showed interstitial deletions, short terminal deletions and other rare rearrangements not previously correctly diagnosed by standard cytogenetics. The diagnosis was made in the first month of life in 42% and within first year in 82% of cases. The remaining 18% were diagnosed at an age ranging from 13 months to 47 years. At the last follow-up, patient age ranged from 8 months to 61 years. Mortality, already low, has decreased over time as it is lower between 1984-2002 compared to 1965-1983. Mortality was higher in patients with unbalanced translocations resulting in 5p deletions. Our data confirm that the cat-like cry and peculiar timbre of voice are the most typical signs of the syndrome, not only at birth but also later and these are the only signs which might suggest the diagnosis in patients with small deletions and mild clinical picture. A cytogenetic and clinical variability must be underlined. Cardiac, cerebral, renal and gastrointestinal malformations were more frequent in the patients with unbalanced translocations resulting in 5p deletions. Sucking and feeding difficulties and respiratory infections are frequent in the first months or years of life. Intubation difficulties linked to larynx anomalies must be considered. Psychomotor development is delayed in all patients but there is a variability related to deletion size and type as well as other genetic and environmental factors. However, the results showed an improvement in the acquisition of the development skills and progress in social introduction which should encourage caregivers and parents to work together in carrying out the rehabilitative and educational interventions.

Adolescent↗
PubMed1999

[Infant cries?!, tears??...and whispers].

Although infant screaming and crying can be a symptom of medical or surgical pathology, it is also a way for the baby to express himself towards his family circle. Once excluded a possible organic disease, infant crying must be interpreted by assessing the family interaction and the way parents listen to their child; that does not mean substituting oneself to the parent's capacity for analysing and replying to the child's needs.

Communication↗
PubMed1998

Acoustic analysis of newborn infant cry signals.

This paper aims at estimating the fundamental frequency (pitch) and the vocal tract resonant frequencies (formants) from newborn infant cry signals. Such parameters are of interest in exploring brain function at early stages of child development, for the timely diagnosis of neonatal disease and malformation. The paper compares a spectral parametric technique and the cepstrum approach, extending previous results. The parametric technique is based on autoregressive models whose order is adaptively estimated on subsequent signal frames by means of a new method. This allows the correct tracking of pitch and formant variations with time. The traditional cepstrum approach is modified in order to follow signal variability. In particular, the cepstrum spectral resolution is improved by applying the chirp Z-transform (CZT) and by adaptively varying the 'lifter' length. The two methods are tested on simulated data, as far as robustness to noise and spectral resolution are concerned, and are then applied to real baby cry data.

Acoustics↗
PubMed1977

The larynx in the cri du chat syndrome.

The Cri du Chat Syndrome which is caused by a chromosome abnormality is described. A summary of the laryngeal features found by various authors has been made. The characteristic cat-like cry is probably central in origin. The larynx in this condition may be normal or abnormal. If abnormal it is just another clinical manifestation of the syndrome.

Child, Preschool↗
PubMedDate not supplied

Collodion baby associated with asymmetric crying facies: a case report.

Collodion baby is a distinct subset of neonatal erythroderma that can be a clinical marker for a variety of underlying abnormalities. The phenotype includes parchment-like hyperkeratosis, pseudocontractures, ectropion, eclabium, absence of eyebrows, and sparse hair. Asymmetric crying facies is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle. Associations of this facial defect with major congenital anomalies have been reported, most commonly in the cardiovascular system, less frequently involving the genitourinary, musculoskeletal, cervicofacial, and respiratory systems, and rarely the endocrine system. We report a newborn with a collodion membrane and asymmetric crying facies. To the best of our knowledge, this association has not been previously published.

Abnormalities, Multiple↗