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Unusual ocular findings in an infant with cri-du-chat syndrome.

A newborn male with cri-du-chat syndrome, congenital nuclear cataracts, microspherophakia, and probably ectopic lenses is reported. Microspherophakia in cri-du-chat syndrome has not been previously described. The congenital cataracts were inherited from his mother who had a balanced 5;13 translocation; the two events are considered to be coincidental and a possible 'position effect' was excluded, since the other members of her family with congenital cataracts, were chromosomally normal. This is the fourth case reported where familial cri-du-chat syndrome involves chromosomes 5p and 13q.

Cataract↗

Intra-oral administration of sweet-tasting substances and infants' crying response to immunization: a randomized, placebo-controlled trial.

The analgesic effects of four solutions administered intra-orally (25 and 50% sucrose solutions, hydrogenated glucose, and a sterile water placebo) were tested in groups of babies receiving routine DTP (diphtheria, tetanus, and pertussis) and HIB (Haemophilus influenzae type B) injections at the first, second, or third immunization. The duration of the baby's cry during 3 min following DTP and HIB injections was measured as main outcome. For all three immunization groups, the babies receiving the placebo generally spent most time crying. For both the DTP and HIB injections, the difference between 50% sucrose and placebo was most evident in the group receiving the 3rd immunization. Intra-oral administration of the 50% sucrose solution, compared to placebo, appeared to reduce the cry response to painful experiences in babies beyond the neonatal period.

Administration, Oral↗

Bifurcations and chaos in the cries of full-term and preterm infants.

Pain-induced crying episodes were collected from groups of full-term and preterm infants and analyzed acoustically for the relative occurrence of various dysphonation segments. The crying episodes of full-term infants were found to contain a greater number of bifurcation and aperiodic segments compared to preterm infants. The results suggest that bifurcation and aperiodic segments are normally occurring phonatory events during infant crying. The differences observed between infant groups are discussed in regard to neuromaturational differences in infants' expression to a painful stimulus.

Crying↗

Asymmetric crying facies and associated congenital anomalies: prospective study and review of the literature.

Congenital asymmetric crying facies, a minor congenital anomaly due to absence or hypoplasia of the depressor anguli oris muscle on one side of the mouth, is associated at times with major congenital anomalies, most commonly in the cardiovascular system. In a prospective study of 5532 infants born at the Assaf Harofeh Medical Center, Israel, during 12 months (January to December 1998), 17 infants (an incidence of 0.31%) had asymmetric crying facies. One of the affected infants had ventricular septal defect and another infant had VATER (vertebral defects, imperforate anus, tracheoesophageal fistula, and radial and renal dysplasia) syndrome. No noxious obstetric perinatal factors could be identified. Family history was unremarkable in all cases. Diagnostic work-up performed in all of the affected infants failed to reveal an additional congenital malformation. Asymmetric crying facies is a minor isolated finding in most of the cases; however, a thorough search for other congenital malformations, especially of the cardiovascular system, should be performed.

Crying↗

Excessive infantile crying: a review of the literature.

Excessive infantile crying is a widespread problem which exerts a serious impact on families' lives. The prevalence, cause, and treatment of the problem have been addressed in the literature for many years but with varying degrees of success. Variation in definition of excessive crying leads to difficulty when comparing results between studies. Flawed method and inadequate sampling characterise many studies in this field, often seriously limiting the usefulness of the findings. Progress has been made in some aspects of excessive crying, and other approaches hold promise of success, but wide gaps remain with regard to cause and treatment.

Colic↗

Cri du Chat syndrome.

The Cri du Chat syndrome (CdCS) is a genetic disease resulting from a deletion of variable size occurring on the short arm of chromosome 5 (5p-). The incidence ranges from 1:15,000 to 1:50,000 live-born infants. The main clinical features are a high-pitched monochromatic cry, microcephaly, broad nasal bridge, epicanthal folds, micrognathia, abnormal dermatoglyphics, and severe psychomotor and mental retardation. Malformations, although not very frequent, may be present: cardiac, neurological and renal abnormalities, preauricular tags, syndactyly, hypospadias, and cryptorchidism. Molecular cytogenetic analysis has allowed a cytogenetic and phenotypic map of 5p to be defined, even if results from the studies reported up to now are not completely in agreement. Genotype-phenotype correlation studies showed a clinical and cytogenetic variability. The identification of phenotypic subsets associated with a specific size and type of deletion is of diagnostic and prognostic relevance. Specific growth and psychomotor development charts have been established. Two genes, Semaphorin F (SEMAF) and delta-catenin (CTNND2), which have been mapped to the "critical regions", are potentially involved in cerebral development and their deletion may be associated with mental retardation in CdCS patients. Deletion of the telomerase reverse transcriptase (hTERT) gene, localised to 5p15.33, could contribute to the phenotypic changes in CdCS. The critical regions were recently refined by using array comparative genomic hybridisation. The cat-like cry critical region was further narrowed using quantitative polymerase chain reaction (PCR) and three candidate genes were characterised in this region. The diagnosis is based on typical clinical manifestations. Karyotype analysis and, in doubtful cases, FISH analysis will confirm the diagnosis. There is no specific therapy for CdCS but early rehabilitative and educational interventions improve the prognosis and considerable progress has been made in the social adjustment of CdCS patients.

Catenins↗

Cardiopulmonary changes in the crying neonate.

To determine hemodynamic effects of crying, 12 newborn infants recovering from the respiratory distress syndrome (RDS) were studied. When crying, the range of inspiratory esophageal pressure was -18.8 to -32.5 cm H2O and the range of espiratory pressure was +6.2 to 34.4 cm H2O. The esophageal pressure remained positive for a mean value of 66% of the respiratory cycle. There was a mean significant increase in heart rate of 19 beats/min. The systolic and diastolic blood pressures increased significantly at the beginning of strain to 115 and 135% of the respective control values. There was a progressive decrease in systolic and diastolic pressures during the period of strain and the systolic pressures reached values significantly less than control. With the decrease in systolic and diastolic pressures, there were pronounced reductions in pulse pressures. Three infants reached pulse pressure values less than 1% of control when cries were sustained for nine cardiac cycles. There was a significant mean decrease in arterial oxygen tension (PaO2) of 16.8 mm Hg. There were no changes in arterial carbon dioxide tension (PaCO2), pH, or base excess.

Blood Pressure↗

Crying seizures.

We report seven patients with crying during video-EEG-documented simple or complex partial seizures. During simple partial seizures, crying occurred with or without appropriate affect. Crying occurred postictally in two patients and was associated with persistent spiking in one of them. Six patients had ictal activity in the nondominant hemisphere, maximal in the anteromesial temporal region in five and in the mesial frontal region in another. These cases support theories proposing a lateralization of emotion, with right hemisphere dominance for negative affective states.

Adult↗

Comparative mapping of the cri du chat and DiGeorge syndrome regions in the great apes.

Structural variations between great ape and human chromosomes due to pericentric inversions and translocations have created at apparent controversy during the reconstruction of hominoid phylogeny. One such variation involves human chromosome 5, which is equivalent to chromosome 4 in chimpanzee and orangutan but equivalent to segments of chromosomes 4 and 19 in gorilla. Obviously, neither banding patterns nor centromeric indecies in these chromosomes match. The pathological condition of cri du chat syndrome is due to the cytogenetic deletion of band p15.2 of chromosome 5. Is this region involved during pericentric inversion of apes chromosome 4? We used a human cosmid probe for cri du chat syndrome as a phylogenetic marker in search of the aforementioned question. The genomic sequences for cri du chat syndrome region were conserved in chimpanzee (PTR4) and orangutan (PPY4) but displayed a positional divergence in gorilla on chromosome 19(GG019). In addition, we used a human cosmid DNA probe for DiGeorge syndrome which is located on chromosome 22 band q11.2 and was conserved within band 23q11.2 in apes. The loci specific human genomic probes may help to describe the inversions and translocations for other chromosomes.

Animals↗

Empathy, gender, and training as factors in the identification of normal infant cry-signals.

The effects of empathy, gender, and training on the ability to identify 4 infant cry-signals (birth, hunger, pain, and pleasure) were studied in 89 college students (ages 18 to 30 yr.), all of whom were low in experience as caregivers to infants. Subjects with training scored significantly higher than those without in identifying all but the pleasure cry-signal. Subjects low in empathy scored significantly better than subjects high in empathy in recognizing the birth cry-signal. Gender made no difference. Brief training may make the crucial difference in the development of this ability. Implications for parenting and infant care are discussed.

Adolescent↗

A neuropsychological-genetic profile of atypical cri du chat syndrome: implications for prognosis.

Cri du chat syndrome is associated with a deletion on the short arm of chromosome 5. The main diagnostic feature is a high pitched, cat-like cry which has recently been localised to 5p15.3 and is separate from the remaining clinical features of the syndrome, which have been localised to 5p15.2. The present study describes a family of four who have a deletion slightly distal (5p15.3) to the critical region. Detailed neuropsychological evaluations indicated a similar pattern of cognitive performance to that reported for subjects with typical CDCS but with only minimal intellectual impairment. In addition, in this family the 5p deletion is transmitted in an autosomal dominant fashion, contrasting with most cases of CDCS, which are either de novo or occur as an unbalanced product of a balanced translocation in a normal parent. This study confirms the importance of differentiating between 5p deletions that coincide with the typical cri du chat phenotype which includes severe to profound learning disability and deletions that only delete the distal critical region that coincides with a milder degree of cognitive impairment and a much improved prognosis.

Adolescent↗

[Underlying cow's milk protein intolerance in excessively crying infants; desirable and undesirable effects of an elimination diet].

In three infants with excessive crying, two girls aged 3 and 13 months and a boy aged 5 weeks, feeding with a hypoallergenic formula was started because cow's milk protein intolerance was suspected. Yet in two of the cases, another explanation for the excessive crying, notably parental distress, was more likely based on the history. In these 2 cases, no provocation test with cow's milk had been performed, and the hypoallergenic formula had been continued for a prolonged period of time (without introduction of solid foods), even though the excessive crying had not ceased. Prolonged feeding with the hypoallergenic formula when cow's milk protein intolerance is not confirmed by appropriate provocation testing, may strengthen the parents' misconception that their baby has severe food intolerance, causing unnecessary delay in the introduction of solid foods. This may hamper the normal development of taste and oral motor development.

Crying↗

Trigeminal schwannoma associated with pathological laughter and crying.

A 46 year old man with trigeminal schwannoma displayed symptoms of ataxia with pathological laughter and crying. The tumour developed in the cerebellopontine angle, compressing the pontomesencephalic structures backward, extending in the posterior parasellar region and Meckel's cave. No recurrence of laughter and crying attacks were noted after total removal of the tumour. Theories of mechanism of pathological laughter and crying reported in the literature are reviewed.

Cranial Nerve Neoplasms↗

Short-term effects of feed composition on sleeping and crying in newborns.

To determine whether the composition of feedings would affect newborn behavior independently of the act of feeding itself, 53 two- to three-day-old normal newborns were randomly assigned to receive an extra feeding of water, carbohydrate (lactose), or balanced formula 3 hours after their usual early morning feeding. Previous studies in adult humans and animals, and a single study in human newborns, have indicated that more sleep might be expected following the carbohydrate feed compared with the water and balanced-formula feeds because of recruitment of centrally mediated serotonergic systems. Behavioral effects were assessed for 40 minutes postfeeding by direct observation of the newborn's states (quiet, active, and indeterminate sleep; drowsiness; non-cry wakefulness; and fret/cry). Feed composition did affect behavior, and the effects were fairly specific to particular newborn states. Non-cry wakefulness and drowsiness were unrelated to the presence or type of nutrients, but they tended to occur soon after the meal in all groups. Crying was increased in water-fed newborns relative to both carbohydrate- and formula-fed newborns. Sleeping showed specific patterns of change in all three groups. Sleep duration was increased in the balanced-formula group compared with the water group throughout the observation period. Contrary to the prediction, sleeping duration in carbohydrate-fed newborns never exceeded that of formula-fed newborns; rather, it resembled that of water-fed newborns early in the postprandial period, but formula-fed newborns later. These effects could not easily be explained by potential confounding factors such as handling, volume ingested, caloric intake, or plasma glucose concentration.(ABSTRACT TRUNCATED AT 250 WORDS)

Crying↗

Associated anomalies in asymmetric crying facies and 22q11 deletion.

Congenital asymmetric crying facies, a minor congenital anomaly due to unilateral absence or hypoplasia of the depressor anguli oris muscle, is associated at times with major congenital anomalies. A large number of asymmetric crying facies cases with chromosome 22q11 microdeletions have presently been reported. Fluorescence in situ hybridization (FISH) analysis for 22q11 deletion was performed on 8 infants with asymmetric crying facies. Five of our patients had at least one associated systemic anomaly. Two of 5 patients had conotruncal heart disease (Cayler cardiofacial syndrome). In three of the affected infants, we failed to reveal additional congenital malformation. The 22q11 deletion was present in only one patient. This baby had congenital hypoparathyroidism, severe neonatal hypocalcaemia and tetralogy of Fallot. We suggest, a 22q11 deletion should be excluded not in all cases but in cases with Cayler cardiofacial syndrome and in ACF associated with additional congenital anomalies.

Abnormalities, Multiple↗

[Cry analysis of hypoacoustic children and normal hearing children].

OBJECTIVE: We analyzed the spectrograms of the cry of deaf children and compared the results with those of normal children. MATERIAL AND METHODS: Twenty deaf children (0-2 years of age, both sexes) and 20 normal hearing children of both sexes within the same age range were studied. The deaf cases were selected from patients with high-risk pregnancies who are followed up at the National Institute of Perinatology (INPer), Department of Human Communication. Brainstem evoked potential responses were carried out in order to corroborate hearing loss in the affected group and to verify normal hearing in the other group. During physical examination in the Human Communication Clinic of the Inper, the cry was recorded with a Fisher tape recorder and MK2 unidirectional microphone. Sonograms were analyzed in the "Laboratorio de Bioacústica" of the Institute of the Human Communication (CNR) using the Software Cool Edit 96. We registered the fundamental frequency and 6 harmonic F1 at F6 (Hz). The cry frequencies of the deaf children were compared and of the normal hearing children using one-way analysis of variance. A typology of frequencies was organized by means of cluster analysis by the method of Ward and was compared with the study groups by means of contingency analysis (chi square). RESULTS: No significant difference was demonstrated in the fundamental frequency or in the harmonic by means of the one-way analysis. With cluster analysis, 8 types were obtained that were not different when compared with the study groups. The hypothesis was rejected with the obtained data. CONCLUSIONS: Upon confirmation of the obtained results, analysis of the spectrogram of deaf children at early ages does not have the ability to identify the problem and thus cannot be used as a method for early detection of deafness.

Crying↗

Maternal Type A behavior during pregnancy, neonatal crying, and early infant temperament: do type A women have type A babies?

It was hypothesized that type A behavior in pregnant women would be associated with increased neonatal crying and differential reports of infant temperament at 3 months. Type A behaviors during pregnancy were measured in a self-selected cohort of 72 healthy, primiparous, middle-class women. Their newborns were assessed at 48 hours of age and the women completed an infant temperament questionnaire at 3 months. Women who were classified as type A on the Job Involvement scale of the Jenkins Activity Survey had infants who cried more during a standardized neurobehavioral assessment compared with infants of women who were type B on the same scale. Women who were type A for Job Involvement rated their 3-month-old infants as more intense and less predictable in their responses to the environment. They were also more likely to be breast-feeding their infants at 3 months. This is the first study to examine the prevalence and nature of maternal type A behaviors during pregnancy and to show their relationship to neonatal crying behavior, to maternal report of early infant temperament, and to maternal breast-feeding.

Adult↗

[Chronic crying in the elderly].

The author is an undergraduate nursing student who has researched the effect of human contact on elderly clients who cry repetitively and without apparent reason. The study attempts to incorporate what we already know about the constant interaction between the individual and the family or social group. The theory developed by Martha A. Rogers was used as the conceptual framework. Rogers' theory compares individuals and their environments to waves in continual motion. Two clients were the focus of this study--a 78-year-old man and an 81-year-old woman. A detailed observation and analysis of their behavior were followed by the identification and charting of the clients' daily rhythms and those of the health care unit, in order to pinpoint regular patterns. For example, in noting the exact time medication is given, it is possible to see how it affects the client's behavior. The author is convinced that human contact is far more beneficial than physical constraints or medication. She proposes an individualized care plan directed by a primary nurse and a select group of other caregivers in order to ensure a consistent approach. The key to resolving the problem of chronic crying is a combination of patience, respect and kindness. The results of her research seem to bear this out. For the male client, the frequency and volume of crying were markedly reduced. The female client learned to express her needs in more acceptable ways. For the staff, this new approach resulted in a significant boost in morale.

Aged↗