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PubMedDate not supplied

"Cri-du-chat" syndrome in a patient born to a mother with a paracentric inversion of chromosome 5q.

We report the case of a female child presented at birth with hypotonia, growth retardation and respiratory distress. Chromosome study from peripheral blood showed a 46,XX,del(5)(p14pter) karyotype. Parental chromosome studies revealed that the mother carried an apparently balanced paracentric inversion of long arms of one chromosome 5, giving the karyotype 46,XX,inv(5)(q12q32), whereas paternal karyotype was normal. The maternal abnormality was confirmed by fluorescence in situ hybridization (FISH) and was not present in the daughter's metaphases. Microsatellite analysis in the proposita and her parents permitted us to conclude that the deleted chromosome 5 was paternal in origin, as usually described. Therefore, as might have been expected, maternal paracentric inversion of chromosome 5q and "cri-du-chat syndrome" presented by the daughter were not related.

Adult↗
PubMed2006

Association between life stress during pregnancy and infant crying in the first six months postpartum: a prospective longitudinal study.

OBJECTIVE: To examine prospectively the relationship between prenatal life stress and infant crying/fussing during the first 6 months of postnatal life, taking into account an array of confounders suggested in the literature. DESIGN: Prospective longitudinal study of a convenient sample, with data points in pregnancy and at about 6 weeks, 3, and 6 months postpartum. METHODS: The study included 86 pregnant women who completed a standardized, validated and widely used questionnaire on negative life changes experienced in the preceding 12 months. Women were grouped by median split on the impact score of negative life changes. Demographic, obstetric and lifestyle variables were obtained from pre- and postnatal interviews and from medical records in order to be taken into account as possible confounders. At all three postnatal data points, mothers kept a validated 5-day 24-h behavior diary to assess durations of infant crying/fussing. RESULTS: Infants of mothers with high scores of negative life changes exhibited more crying/fussing than infants born to mothers with low negative change scores, throughout the first half year postpartum, but particularly at ages 3 and 6 months. These results do not seem to be spurious due to the confounders considered in this report or to recording bias. CONCLUSION: Prenatal life stress is associated with infant crying/fussing in the first half year after delivery. To prevent or reduce infant crying and to foster a well-adapted parent-infant relationship, professionals attending expectant mothers should consider their emotional condition. If required, support should be provided already in pregnancy.

Adult↗
PubMedDate not supplied

How mothers respond to their crying infant.

INTRODUCTION: The purpose of this study was to allow mothers who are at high risk for abusing their child to describe how they manage when their infant cries. METHOD: This phenomenologic qualitative study used a focus group design and semi-structured interview format. Participants were seven low-income women with a child enrolled in an urban day care facility, which provided the setting for data collection. RESULTS: Analyses of the data revealed three themes: (a) activities done to pacify the infant, (b) coping mechanism, and (c) social support available. DISCUSSION: The results of this study indicate that activities (a) may include the infant, such as holding and singing, or (b) may be directed toward the mother, such as using headphones or leaving the room. These activities follow the guidelines of the American Academy of Pediatrics and are not unique. Social support primarily was provided at the day care facility, supplemented with personal relationships that are tentative. Valued informal and formal interactions with supportive persons provide the emotional and psychosocial support for this at-risk population.

Adult↗
PubMed2004

Alternative cognitive therapy for emotional instability (pathologic laughing and crying).

Emotional instability (EI) is involuntary laughing and crying associated with brain damage seen in a variety of disorders. This article discusses occurrence, impact, and diagnosis, and neuroanatomic substrates underlying proposed mechanisms producing EI are outlined and related to traditional drug treatment. An expanded neuroanatomic model is suggested emphasizing the prefrontal cortex as the center integrating information from a complex emotion and sensory loop with motor information destined for the faciorespiratory nuclei in the brainstem. Disturbance at any level in the loop is proposed to produce EI by degrading information to or from the prefrontal cortex, disrupting its inhibitory control of the nuclei. An alternative cognitive therapy for EI was developed to compensate for deficits resulting from structural lesions by strengthening undamaged pathways, which is achieved by superimposing volitional movement on muscles affected during an EI episode. Treatment of 17 patients showed significant reductions in EI severity and occurrence, and in contrast to drug treatments,the effect was sustained at 3- to 6-month follow-up.

Cognitive Behavioral Therapy↗
PubMed1993

Fetal choroid plexus cysts in association with cri du chat (5p-) syndrome.

The significance of fetal choroid plexus cysts is controversial. We report a case of antenatally detected cri du chat syndrome (5p-) in one fetus of a twin pregnancy in association with bilateral fetal choroid plexus cysts and unassociated with other structural malformations. Choroid plexus cysts may be nonspecific markers for chromosomal anomalies.

Adult↗
PubMed1998

Theta rhythms associated with sucking, crying, gazing and handling in infants.

In order to specify the locations and to clarify the electrophysiological significance of the transitory rhythmic theta activities detected on scalp electrodes in infants, we performed simultaneous EEG and video recording with power spectral map analysis in 29 normal infants of less than 1 year of age. The rhythmic theta activities appeared in posterior temporal regions with sucking or crying, in the parietal region with gazing, and in the frontal region with handling. Each specific location of the theta rhythm seemed to correspond to the functional localization in the infant's brain. We thus concluded that these rhythmic theta activities might originate from direct cortical activation, or from the cortical activation driven by the neuronal impulses from the limbic system through the connection between that system and the cortex.

Brain Mapping↗
PubMedDate not supplied

Receptive and expressive language skills in children with cri-du-chat syndrome.

Receptive and expressive language skills were assessed in 13 children with cri-du-chat syndrome. Two patterns of performance were found. One pattern was the discrepancy between the children's chronological ages and their presumed language ages. The second pattern was the receptive-expressive discrepancy with reduced expressive skills compared to receptive skills. One implication of these findings is that remediation that focuses on receptive skills may be more effective than traditional verbal methods.

Adolescent↗
PubMed1983

Clinical heterogeneity in 80 home-reared children with cri du chat syndrome.

A population of 80 home-reared children with cri du chat syndrome was investigated to document the clinical heterogeneity of the syndrome and to analyze the factors influencing the severity of the phenotypic characteristics. When individuals with isolated deletions were compared with those possessing unbalanced translocations involving other chromosomes in addition to number 5, the latter group had a greater incidence of physical anomalies, more frequent hospitalizations, and a higher mortality. Chronic complaints in both groups included upper respiratory tract infection, otitis media, and a previously unrecognized association with gastrointestinal tract anomalies. In children with terminal deletions, there was a significant negative correlation between the size of the deletion and the individual's intelligence quotient. In addition, patients with larger deletions had more severe growth retardation, particularly with respect to the degree of microcephaly. The gradual progression with age of the characteristic facial features remained consistent regardless of differing racial backgrounds and the size of the deletion. Our findings delineate the variation in the clinical and karyotypic features of this syndrome.

Adolescent↗
PubMed1999

Pathological laughing and crying in amyotrophic lateral sclerosis: an association with prefrontal cognitive dysfunction.

Pathological laughing and crying (PLC) frequently occurs in amyotrophic lateral sclerosis (ALS). The etiology of the syndrome is unclear, but frontal-subcortical circuits are implicated, given their known association with mood and affect regulation. Ten ALS patients with PLC, eight patients without, and ten healthy controls were compared on a number of psychometric measures. Three indices of prefrontal cortical function were given: the Wisconsin Card Sort Test (WCST), the novel 'Gambling task' and a measure of olfactory discrimination. Global cognitive ability, psychiatric symptoms, and illness variables were also examined. No significant between-groups differences emerged with respect to global cognitive ability, mood, olfaction, and performance on the Gambling task. On the WCST, however, patients with PLC made significantly more total errors than the other two groups, and showed a strong trend in a similar direction for perseverative errors. A discriminant function analysis revealed that the WCST variable 'total errors' correctly predicted the presence or absence of pathological affect in 75% of cases. Thus, PLC appears to be associated with impairment in the functional integrity of the prefrontal cortex. Although this was not found for all prefrontal measures, further investigation of this area appears warranted.

Aged↗
PubMed1984

"Colic"--primary excessive crying as an infant-environment interaction.

This article defines "colic" as excessive crying in young infants and suggests some specific diagnostic criteria. The three main theories of single causes are reviewed: feedings, psychosocial environment, and problems in the infant. In place of these oversimplified explanations, this article proposes an interactional model that considers both intrinsic and extrinsic factors. Recommendations for management include suggestions for handling the infant, the environment, and their interaction. Some suggestions are then offered for improving the quality of future research.

Animals↗
PubMed2001

Excessive infant crying: often not confined to the first 3 months of age.

Excessive crying/fussing in infancy may account for serious problems in mother-infant interactions but is believed to be self-limiting around the age of 3 months. A random digit dialling telephone survey weighted by sex, age, and population density and yielding 662 children aged 9 to <36 months was used to estimate prevalence and the proportion of cases where this problem extends beyond the third month postpartum. Excessive infant crying/fussing during the first 3 months of age was found in 21.0% (95% CI 17.9-24.1) and persisted for longer in 39.6% (95% CI 31.5-47.7) of these. Professionals consulting parents on crying problems should take into account its possible persistence for longer periods of time.

Adolescent↗
PubMed2003

Congenital asymmetric crying facies and agenesis of corpus callosum.

Although association of congenital asymmetric crying facies (CACF) with major congenital anomalies of central nervous system (CNS) has been described, brain magnetic resonance imaging (MRI) studies have not been reported. Two children who had CACF associated with agenesis of corpus callosum (ACC) diagnosed by MRI are described. Neurofibromatosis type 1 (NF-1) was diagnosed in one case. Both patients had developmental delay. To the best of our knowledge, only one previous case with CACF associated with ACC has been reported, but our cases are the first cases reported with the characteristic findings of ACC on MRI. Although café-au-lait spots have been described in previous cases, the coexistence of CACF and NF-1 has not previously been reported. Although these associations may be coincidental, clinicians should be aware of the potential link between these entities. Furthermore, these findings emphasize the importance of MRI studies for detecting brain anomalies in cases with CACF and suspected CNS involvement.

Agenesis of Corpus Callosum↗
PubMed1996

Parametric and non-parametric estimation of speech formants: application to infant cry.

The present paper addresses the issue of correctly estimating the peaks in the speech envelope (formants) occurring in newborn infant cry. Clinical studies have shown that the analysis of such spectral characteristics is a helpful noninvasive diagnostic tool. In fact it can be applied to explore brain function at very early stage of child development, for a timely diagnosis of neonatal disease and malformation. The paper focuses on the performance comparison between some classical parametric and non-parametric estimation techniques particularly well suited for the present application, specifically the LP, ARX and cepstrum approaches. It is shown that, if the model order is correctly chosen, parametric methods are in general more reliable and robust against noise, but exhibit a less uniform behaviour than cepstrum. The methods are compared also in terms of tracking capability, since the signals under study are nonstationary. Both simulated and real signals are used in order to outline the relevant features of the proposed approaches.

Computer Simulation↗
PubMed1999

Cognitive functioning in children with typical cri du chat (5p-) syndrome.

This study is the first attempt to assess systematically the cognitive functioning in children diagnosed with typical cri du chat syndrome (CDCS) using neuropsychological test measures. Twenty-six children aged between 6 years 4 months and 15 years 5 months (mean 8 years 3 months) completed a battery of tasks measuring IQ level, receptive and expressive language skills, and articulation. Twenty-four children were in the severe learning-disability range with no specific verbal or performance profile. Using more finely tuned measures of cognition, however, a clear discrepancy in the pattern of language functioning was found with better receptive than expressive language skills. One implication of these findings is that parents and professionals should be more optimistic about the capacities of children with CDCS to understand more complex verbal commands than their expressive language skills would suggest.

Adolescent↗
PubMed1999

FISH analysis of terminal deletions in patients diagnosed with cri-du-chat syndrome.

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.

Child↗
PubMed2002

A survey of the prevalence of stereotypy, self-injury and aggression in children and young adults with Cri du Chat syndrome.

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.

Adolescent↗
PubMed2003

Early play behaviour in children with 5p- (Cri-du-Chat) syndrome.

BACKGROUND: 5p- (Cri-du-Chat) syndrome (5p-S) is a well defined chromosomal condition. While the physical symptoms have frequently been documented, the developmental and behavioural aspects of the syndrome have not been explored adequately, especially in young children. METHOD: Mental level, and complexity and style of play were analysed in 10 children who were homogeneously selected with respect to their chronological age (range = 2-7 years). RESULTS: A high rate of distractability and a low level of object-directed behaviours were observed in the play sessions. The findings were compared to two comparison groups (subjects with Down's syndrome or Cornelia-de-Lange syndrome) matched for mental age in order to analyse the specificity of these behavioural features for young children with 5p-S. CONCLUSIONS: A low level of object-directed behaviours may be an early precursor of hyperactivity, distractability and stereotypy, which have been reported to be the characteristic features of the behavioural phenotype of older individuals with 5p-S.

Child↗
PubMed2002

Unexplained infant crying: an evolutionary perspective.

UNLABELLED: The absence of adverse health outcomes later in development and the similarity of defining features of "colic" across cultures suggest that an evolutionary perspective may give us some insight into the nature of this puzzling condition. Evidence suggests that the larynx evolved first as a protective valve and later as a means to stabilize the upper thorax momentarily for precision upper arm movements. Recently, we found another physiological role for the larynx in regulating respiratory function to promote the recovery of young rats from severe hypothermia. In the process, bursts of calling were emitted by unconscious pups, which were nevertheless effective in eliciting maternal search and retrieval. These unexpected findings reveal how infant calling may have evolved as a communicative signal derived from more primitive physiological functions of the larynx. Repetitive calling in the normal young rat when isolated from its littermates and mother is regulated by multiple sensory cues present in the infant's social interactions, and in the paper it is described how this sensory input projects to central neuromodulatory systems known to be active in the control of anxiety behaviors in adult rats and humans. CONCLUSION: This broad range of functions for infant calling in other mammals suggests several new ways to approach the further study and treatment of unexplained crying in human infants.

Animals↗