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A 19-year-old primigravida was found to have an encephalocele on screening ultrasound study. Amniocentesis indicated cri du chat syndrome, 5p-. Although cri du chat syndrome has been noted in association with central nervous system malformations, encephalocele is a rare finding in this syndrome.
The relationship between emotional crying and secretory immunoglobulin A (S-IgA) in whole saliva was examined. Previous research had indicated that lower S-IgA was associated with crying. Similar results were found in the present study. Depressed mood was not associated with S-IgA.
As part of a larger study designed to test the predictive power of recordings of infant cry for neurological development at a year of age, we have developed a summary measure of a cry which shows a very high consistency within an individual. This measure may be useful in making assessments of anatomical structure in the infant vocal tract.
This paper describes the distribution of energy and energy variance with frequency in the cries of normal and birth asphyxiated infants recorded within eight days of delivery. Single-variable statistical analysis suggested that asphyxiated infants have their cries shifted up in frequency compared to control infants, up to a frequency of 10 kHz.
Milk (Similac), sucrose (12% wt/vol), or water were delivered to crying normal newborns once per minute for 5 minutes, in a volume of 0.1 mL/delivery. Milk and sucrose markedly reduced infant crying, and this calm persisted during the 3 minutes after substance delivery. Infants who received water were only marginally quieted, and this calm did not persist. Despite quieting agitated infants, milk did not cause them to bring their hands to their mouths during the period of milk treatment, whereas infants who received sucrose did bring their hands to their mouths. These data demonstrate that milk effectively quiets human newborns, that its quieting effects endure, and that the mechanisms that quiet and that underlie hand-in-mouth engagement are separable and independent.
The Breathing Bear, an optional source of rhythmic stimulation for infants, was investigated for its effects on full-term infants and their mothers. The Bear "breathes" like a normal infant at a rate matching the infant's. Previous studies have indicated that premature infants prefer a Breathing Bear over a Non-Breathing Bear, and they show neurobehavioral benefits from the exposure. A Breathing Bear was provided for 35 full-term infants, and a Non-Breathing Bear was provided for 37 infants from 5 weeks to 6 months postnatal age, all of whom were considered by their mothers to be fussy. Mothers' reports of infant crying, ratings of their infants' temperament, and their own stress and depression were assessed during and after the intervention period. Reported crying did not differentiate the groups. After 6 months, the mothers in the Breathing Bear group rated their infant's temperament less negatively and themselves less depressed and stressed than the mothers in the Non-Breathing Bear group. Thus, the Breathing Bear had measurable effects on the mothers and a possible impact on the mother-infant relationship.
Chromosome-specific cDNA libraries are new tools for the isolation of genes from specific genomic regions. We have used two YACs than span the approximately 2-Mb cri-du-chat critical region (CDCCR) of chromosome 5p to directly screen a chromosome 5-specific (CH5SP) fetal brain cDNA library. To compare this library with other sources for new gene discovery, the YACs were hybridized to a normalized infant brain (NIB) cDNA library that has been used extensively for expressed sequence tag (EST) generation. These screens yielded 12 cDNAs from the CH5SP fetal brain library and four cDNAs from the NIB library that mapped to discrete intervals within the CDCCR. Four cDNAs mapped within the minimal CDCCR deletion interval, with the remaining cDNAs being located beyond the boundaries. Only one cDNA shared sequence overlap between the CH5SP and NIB sets of clones. None of the remaining 11 CH5SP cDNAs were homologous to EST sequences, suggesting, in common with previous data on these libraries, that chromosome-specific cDNA libraries are a rich source of new expressed sequences. The single cDNA that did overlap with the NIB library contained two copies of a sequence motif shared with thrombospondin, properdin, and several complement proteins. This motif is usually present in adhesive proteins, and appears to mediate cell-cell or cell-substrate interactions. This new thrombospondin-like gene, and the other three cDNAs that map within the CDCCR, represent candidate genes for the cri-du-chat contiguous gene deletion syndrome.
Dermatoglyphic sole and palm patterns were studied in Danish cri du chat probands and in two control groups in order to estimate the diagnostic usefulness of the patterns. A linear discriminant function was developed based on three sole variables (I, III, IV) and four palm patterns (I, axial triradius, simian lines and IV + IVU + IVD), respectively. The palm patterns gave a better separation than the sole patterns. Only one of the 31 probands was not classified correctly from both sole and palm patterns. Dermatoglyphic analysis may therefore be of some diagnostic use along with other clinical features in cases with suspicion of the cri du chat syndrome.
A child is described with most of the typical clinical features of the cri-du-chat syndrome. G- and C-banding studies revealed the karyotype 45,XX, -5, -15, +tdic (5;15) with the loss of short arm material from chromosome 5. Centromeric heterochromatin of the translocated No. 15 is still present in the translocation chromosome. However, no silver precipitation after AgNO3-staining was observed on the translocation chromosome, thus indicating a loss or genetic inactivation of the NOR-region of the translocated No. 15. These cytogenetic results and their possible relationship to the cri-du-chat phenotype are discussed.
A 12-year-old boy with a history of a mewing cry after birth, severe mental retardation, Marfanoid arachnodactyly, general osteomalacia and multiple bone fractures was found to have a de novo 5p;12q chromosomal translocation. The karyotype is 46,XY,t(5;12)(12qter----12q24.1::5p15----cen----5qt er; 12pter----cen----12q24.1). The karyotypes of other examined family members are normal. The manifestations of cri du chat syndrome are explained by the loss of a small segment of 5p15 which is responsible for the major stigmata of the syndrome, and the abnormalities of the osseous system may be the results of untreated vitamin D resistant rickets.
We describe a mother and daughter with typical cri du chat syndrome. Previous investigators have noted the lack of information about the reproductive fitness of patients with this disorder. This report demonstrates that females with cri du chat syndrome are fertile, can gestate and likewise deliver affected offspring, which has significant management and counseling implications.
We studied the effect of crying and facial expression on TcB readings at the forehead in 38 high-risk full-term newborn infants. Our study showed that crying and facial expression were significant factors affecting the TcB readings at the forehead. We recommend that TcB readings at the forehead should be obtained in a quiet condition.
To determine whether a single intra-oral administration of sucrose would calm infants and elicit mouthing and hand-mouth contact, crying newborn and six-week-old infants were given sucrose solution before one feed and sterile water before another in a cross-over trial. Six-week-old infants were also given sucrose and water after feeding. For the newborn infants, the calming effect was rapid, substantial and lasted for at least four minutes. Mouthing and hand-mouth contact increased, but for shorter durations. For the six-week-old infants, sucrose calmed for one minute only before feeding, but had no effects on mouthing or hand-mouth contact. The results imply that intra-oral sucrose has acute age-related effects on crying and suckling-feeding behaviour mediated by a pre-absorptive mechanism. Sucrose may tap a functional system for reducing distress related to feeding and/or regulation of infant state.
The aim of the present study was to compare temperatures, metabolic adaptation and crying behavior in 50 healthy, full-term, newborn infants who were randomized to be kept either skin-to-skin with the mother or next to the mother in a cot "separated". The babies were studied during the first 90 min after birth. Axillary and skin temperatures were significantly higher in the skin-to-skin group; at 90 min after birth blood glucose was also significantly higher and the return towards zero of the negative base-excess was more rapid as compared to the "separated" group. Babies kept in cots cried significantly more than those kept skin-to-skin with the mother. Keeping the baby skin-to-skin with the mother preserves energy and accelerates metabolic adaptation and may increase the well-being of the newborn.
Cri du Chat Syndrome occurs as a result of a partial deletion in the short arm of chromosome 5. Among the consequent abnormalities are low birth weight, a striking catlike cry in infancy, mental retardation, epicanthal folds, hypertelorism and dental malocclusions. This paper presents a case report on the dental treatment of a 23-year-old patient who received multidisciplinary treatment, including special education and precocious stimulation for carriers of this syndrome.
Four behavioural states are recognised in the human fetus and are comparable to those of the neonate: 1F (quiet sleep), 2F (active state), 3F (quiet awake), and 4F (active awake). State 5, or crying, is not considered to have a fetal correlate. In a study assessing the effects of exposure to tobacco and cocaine during pregnancy on fetal response and habituation to vibroacoustic stimulation, what appears to be the fetal homologue of crying was observed. These behaviours were seen on ultrasound, and have been captured on video recordings and include: an initial exhalation movement associated with mouth opening and tongue depression, followed by a series of three augmented breaths, the last breath ending in an inspiratory pause followed by an expiration and settling. This is the first report/video documenting these behaviours and suggests the possibility of a state 5F.
We assessed risk groups for excessive infant crying using 10 published definitions, in 3179 children aged 1-6 months (response: 96.5%). Risk groups regarding parental employment, living area, lifestyle, and obstetric history varied by definition. This may explain the existence of conflicting evidence on the occurrence and cause of excessive crying.
An unbalanced Y autosome translocation t(5;Y) and an apparently balanced translocation t(2;13) are identified with the Q and R banding in a 7-year-old boy with severe encephalopathy and a multiple malformation syndrome. At birth, the clinical diagnosis of 'cri du chat' syndrome based on the characteristic crying was not confirmed after karyotyping, using conventional staining techniques.