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Growth charts for cri-du-chat syndrome: an international collaborative study.

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.

Adolescent↗

Cri du chat syndrome and complex karyotype in a patient with infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia.

Seizures are rarely reported in association with deletion or duplication syndromes of the short arm of chromosome 5, or with chromosome 5 rings. We report on the clinical and cytogenetic findings in a girl with Cri du chat syndrome associated with complex abnormalities in chromosome 5, dysmorphic features, flexor infantile spasms, hypsarrhythmia, nonketotic hyperglycinemia, and heterotopia in her brain. Peripheral blood cytogenetic analysis indicates a mosaic karyotype with de novo deletion of varying amounts of 5p and pericentric inversion of the same chromosome 5. The deleted segment on 5p includes the region implicated in the catlike cry as well as sequences implicated in development of facial dysmorphism and mental retardation. This is the first case with Cri du chat syndrome associated with nonketotic hyperglycinemia, infantile spasms, hypsarrhythmia, and heterotopia.

Abnormalities, Multiple↗

Prenatal diagnosis of cri du chat (5p-) syndrome in association with isolated moderate bilateral ventriculomegaly.

A case of prenatally detected cri du chat syndrome (5p-) is reported. Amniocentesis was performed following an abnormal ultrasound finding of isolated moderate bilateral ventriculomegaly. The karyotype showed a terminal deletion of the short arm of chromosome 5 including the critical region 5p15 for cri du chat syndrome. This was confirmed by fluorescence in situ hybridisation (FISH). Isolated mild ventriculomegaly may be a non-specific marker for cri du chat syndrome.

Adult↗

Molecular approach to analyzing the human 5p deletion syndrome, cri du chat.

DNA unique or low-copy fragments were isolated from a genomic DNA library specific for the short (p) arm of human chromosome 5. These chromosome 5p-specific DNA fragments were used to analyze, by Southern blot experiments, somatic cell hybrids that retained either a normal chromosome 5 homolog or a homolog with a partial deletion of 5p, which was derived from either of two persons with the common human deletion syndrome, cri du chat or 5p- syndrome. In these studies, two classes of DNA fragments were identified, those located outside the region deleted in the persons with cri du chat and those located within the deleted region. This latter class of DNA probes will help to define, at the molecular level, a region of 5p that is critical in producing the phenotype associated with the cri du chat syndrome.

Animals↗

Familial double pericentric inversion of chromosome 5 with some features of cri-du-chat syndrome.

Fluorescence in situ hybridization analysis was performed to characterize a complex pericentric inversion involving chromosome 5 in a mother and son. The mother had hypertelorism, epicanthal folds, and mild mental deficiency while the son had additional anomalies that have been observed in patients with cri-du-chat syndrome. Both individuals were found to have an identical double pericentric inversion [inv5(p15.1q31(inv5(p14q12)))]. Neither inversion breakpoint mapped near the chromosomal regions implicated in the cri-du-chat syndrome. The phenotype of the son suggests that the inversion process may have affected the expression of some of the cri-du-chat syndrome genes, suggestive of a genomic imprinting or penetrance effect.

Adult↗

Cri du Chat: report of a case.

Since Lejeune et al. (1963) first described the syndrome of Cri du Chat (Cry of the Cat), cases have been described in the literature in terms of genetic abnormalities. All cases were severely retarded and the mental impairment has been believed to be progressive, although no longitudinal studies have been reported. Descriptions of speech and language behavior have been scarce. This paper presents a case of a 7-yr, 6 mo-old girl with Cri du Chat who has received speech and language therapy for five years. Her speech, language, and mental development are noted and are not consistent with cases reported previously.

Child↗

Phonatory and phonetic characteristics of prelinguistic vocal development in cri du chat syndrome.

A longitudinal case study of a child with cri du chat syndrome was undertaken to provide descriptive data on early phonatory and phonetic development in comfort state vocalizations. Vocal samples collected when the child was between 8 and 26 months of age were analyzed using perceptual and acoustic methods. Results indicated that the high vocal fundamental frequently documented in cries of infants with cri du chat syndrome was also a characteristic of comfort state vocalizations of this child. An analysis of intonation patterns indicated there was a predominance of falling intonation contours and limited interutterance variation of fundamental frequency. Phonetic development was quite delayed, with major acquisitions in babbling showing marked delay relative to chronological age. Acquisition of the first spoken word had not occurred by the age of twenty-six months. Results suggest that significant cognitive and/or motor delays may have an influence on the integrity of early vocal development, which calls into question the notion that babbling development proceeds relatively independently of other developmental domains.

Child, Preschool↗

Vocal fundamental frequency characteristics of infant hunger cries: birth to 12 months.

The vocal fundamental frequency (Fo) characteristics of four infants' hunger cries are reported. The infants were audio recorded at monthly intervals during the first year of life. In general, each infant's Fo increased across the one-year period. The increase in Fo was attributed to the transition from early reflexive crying to intentional vocalization behavior, rather than anatomical and physiological growth influences. Discussion focuses on the regulation of infant crying behavior across the first year of life, as well as the diagnostic implications of these findings.

Aging↗

Cri du chat syndrome determined by the 5p15.3-->pter deletion--diagnostic problems.

A cytogenetic analysis was performed on an 8-day-old girl, who was suspected of Cri du chat syndrome (CdCS) on the basis of a cat-like cry, despite her dysmorphic features not being characteristic of this syndrome. The cytogenetic analysis revealed a partial deletion of the short arm of chromosome 5, but did not allow precise specification of the break points. Fluorescence in situ hybridization (FISH) analysis, using the specific probe for CdCS, revealed two signals in all the cells analyzed. However, one of two signals was less intense than the other. Thus, telomere probes were applied for all chromosomes. Two signals from 5q and one signal from 5p were observed. The results allowed us to establish the location of the deleted fragment as 5p15.3-->5pter [46,XX,del(5)(p15.3)]. The analysis of a genotype-phenotype correlation confirmed that the cat-like cry, but not the characteristic dysmorphic features of CdCS are correlated with the deletion of 5p15.3.

Abnormalities, Multiple↗

Du rire aux larmes: pathological laughing and crying in patients with traumatic brain injury and treatment with lamotrigine.

Pathologic laughter and crying (PLC) is the involuntary occurrence of laughter and crying in the absence of a corresponding change in affect. PLC resulting from structural brain damage in patients with traumatic brain injury can be the cause of substantial social dysfunction in these patients. The use of lamotrigine as an antiepileptic drug and mood stabilizer is well established; its use in PLC has been reported only once during treatment following a stroke. We present here four young patients with pathological laughter and/or pathological crying following traumatic brain injury who were successfully treated with lamotrigine. Data supporting the use of lamotrigine in the treatment of PLC following traumatic brain injury and the neuroanatomy of pathological laughing are briefly reviewed.

Adolescent↗

Pathological crying and laughing: treatment with sertraline.

OBJECTIVE: To evaluate the efficacy of sertraline for treating pathological laughing and crying after stroke. DESIGN: Case series. SETTING: Inpatient rehabilitation units of a community and a tertiary-care hospital. PATIENTS: One patient was a 62-year-old right-handed man who had two strokes approximately 2 years apart and had computed tomography consistent with a cerebral infarct involving the left middle cerebral artery branches in the left parietal lobe. A second patient was a 72-year-old right-handed man who had a right middle cerebral artery infarct. He had a questionable history of depression prior to the stroke. INTERVENTION: Both patients had poststroke labile affect that was interfering with their rehabilitation. Sertraline was prescribed. MAIN OUTCOME MEASURES: Pretreatment and posttreatment scores on the Pathological Crying and Laughing Scale and Functional Independent Measure. RESULTS: Both patients showed significant improvement after taking sertraline-improvement that was reflected in their pretreatment and posttreatment scores on the Pathological Crying and Laughing Scale and Functional Independent Measure. The staff noted improvements in sleeping, eating, social interaction, and therapy participation. Both patients tolerated the sertraline well and had no significant side effects.

1-Naphthylamine↗

Differential sex-independent amygdala response to infant crying and laughing in parents versus nonparents.

BACKGROUND: Animal and human studies implicate forebrain neural circuits in maternal behavior. Here, we hypothesized that human brain response to emotional stimuli relevant for social interactions between infants and adults are modulated by sex- and experience-dependent factors. METHODS: We used functional magnetic resonance imaging and examined brain response to infant crying and laughing in mothers and fathers of young children and in women and men without children. RESULTS: Women but not men, independent of their parental status, showed neural deactivation in the anterior cingulate cortex, as indexed by decreased blood oxygenation level-dependent signal, in response to both infant crying and laughing. The response pattern changed fundamentally with parental experience: in the amygdala and interconnected limbic regions, parents (independent of sex) showed stronger activation from crying, whereas nonparents showed stronger activation from laughing. CONCLUSIONS: Our data show sex- and experience-dependent modulation of brain response to infant vocalizations. Successful recognition and evaluation of infant vocalizations can be critical for bonding mechanisms and for offspring well-being and survival. Thus, the modulation of responses by experience seems to represent an adaptive mechanism that can be related to reproductive fitness.

Acoustic Stimulation↗

Dynamic behavior of the auditory N100 elicited by a baby's cry.

We compared auditory N100 responses in female adults to two non-attended human sound stimuli. An infant's cry represented an unfamiliar, emotionally colored sound and the Finnish word "hei" (meaning "hi") a familiar and emotionally neutral sound. Both sounds elicited clear N100 responses over auditory areas in both hemispheres. However, the dynamic behavior of the N100 response following the first few repetitions of the sounds was significantly different. We observed faster habituation and longer response latencies, particularly over the ipsilateral hemisphere, during the first and second repetitions of the cry stimulus. This pattern may reflect an altered arousal level and slower, bilateral processing during the unfamiliar emotionally loaded cry as compared to the emotionally neutral word "hei" .

Acoustics↗

The crying infant.

The crying infant is a common presenting complaint and a difficult diagnostic dilemma that may represent the primary manifestation of a serious or even life-threatening condition. Although many children experience an exacerbation of the normal crying tendencies or minor ailments typical of the early months of life, a significant number of infants have underlying pathologic conditions requiring immediate intervention. This article briefly reviews current and past research on this phenomenon and presents differential diagnoses and recommendations for the evaluation and management of the acute crying episode.

Algorithms↗

Auditory perception of laughing and crying activates human amygdala regardless of attentional state.

Adequate behavioral responses to socially relevant stimuli are often impaired after lesions of the amygdala. Such lesions concern especially the recognition of facial and sometimes of vocal expression of emotions. Using low-noise functional magnetic resonance imaging (fMRI), we investigated in which way the amygdala, auditory cortex and insula are involved in the processing of affective nonverbal vocalizations (Laughing and Crying) in healthy humans. The same samples of male and female Laughing and Crying were presented in different experimental conditions: Simply listening to the stimuli, self-induction of the corresponding emotions while listening, and detection of artificial pitch shifts in the same stimuli. All conditions activated the amygdala similarly and bilaterally, whereby the amount of activation was larger in the right amygdala. The auditory cortex was more strongly activated by Laughing than by Crying with a slight right-hemisphere advantage for Laughing, both likely due to acoustic stimulus features. The insula was bilaterally activated in all conditions. The mean signal intensity change with stimulation was much larger in the amygdala than in auditory cortex and insula. The amygdala results seem to be in accordance with the right-hemisphere hypothesis of emotion processing which may not be applicable as strongly to the level of auditory cortex or insula.

Acoustic Stimulation↗

Crying in the first year of life: good news in the midst of distress.

Excessive crying and colic in the first 3 months of life remain as mysterious and unsolved clinical problems. The mystery is contributed to by the relative lack of long-term follow-up studies. The findings from four new follow-up studies of infants with prior colic are analyzed in an attempt to derive a clearer picture of what 'life after colic' might be like for parents, infants, and their interactions. The bad news is that, for a subgroup of infants and parents, especially those with substantial additional risk factors, early excessive crying may not resolve, but evolve into a more generalized 'persistent mother-infant distress' syndrome. For some mothers of infants with colic, the risk of depressive symptoms or decreased self-efficacy may be increased. However, there appears to be good news for a substantial majority of infants with colic and for their parents. This includes a significant reduction over time in the amount of crying, intact parental and infant capacities to be responsive in interactive contexts, no significant maternal stress, and normal attachment relationships.

Adult↗

Excessively crying infant in the family: mother-infant, father-infant and mother-father interaction.

METHOD: We studied mother-infant, father-infant and mother-father interaction in 32 families with an excessively crying infant and in 30 control families. The group with excessive criers was divided further into subgroups of severe colic (n=13) and moderate colic (n=19). The three dyads of the family were video-recorded when the infants were an average of 5 weeks old. The assessment was carried out during the infant's feeding, nappy change and discussion between the parents. During the assessment, only four infants were crying. The Parent Child Early Relational Assessment Scale and the Beavers Scale were used. RESULTS: The main findings suggest that both parents of colicky infants had less optimal parent-child interaction compared with the control parents. The problems in the interaction were most pronounced between the fathers and infants in the severe colic group. The father-infant interaction was less optimal in 13 items of 65 (20%) in the severe colic group, in one item of 65 (2%) in the moderate colic group and in none of the items in the control group. The mother-infant interaction was less optimal in six items out of 65 (9%) in the severe colic group, in three items out of 65 (5%) in the moderate colic, and in none of the items in the control group. Severely colicky infants were also less competent in interacting with their parents. In addition, interaction between the parents was more often dysfunctional in the severe colic group. CONCLUSIONS: The problems in early family interaction may threaten the well-being of families with excessively crying infants and they therefore deserve special attention from the health care professionals.

Adult↗

Maternal analgesia during labor disturbs newborn behavior: effects on breastfeeding, temperature, and crying.

BACKGROUND: Newborns not exposed to analgesia, when placed on the mother's chest, exhibit an inborn prefeeding behavior. This study was performed to assess the effects of different types of analgesia during labor on the development of spontaneous breastfeeding movements, crying behavior, and skin temperature during the first hours of life in healthy term newborns. METHODS: Video recordings were made of 28 newborns who had been dried and placed in skin-to-skin contact between their mother's breasts immediately after delivery. The video recordings were analyzed blindly with respect to infant exposure to analgesia. Defined infant behaviors were assessed every 30 seconds. Group 1 mothers (n = 10) had received no analgesia during labor, group 2 mothers (n = 6) had received mepivacaine via pudendal block, and group 3 mothers (n = 12) had received pethidine or bupivacaine or more than one type of analgesia during labor. RESULTS: All infants made finger and hand movements, but the infant's massagelike hand movements were less frequent in infants whose mothers had received labor analgesia. A significantly lower proportion of group 3 infants made hand-to-mouth movements (p < 0.001), and a significantly lower proportion of the infants in groups 2 and 3 touched the nipple with their hands before suckling (p < 0.01), made licking movements (p < 0.01), and sucked the breast (p < 0.01). Nearly one-half of the infants, all in groups 2 or 3, did not breastfeed within the first 2.5 hour of life. The infants whose mothers had received analgesia during labor had higher temperatures (p = 0.03) and they cried more (p = 0.05) than infants whose mothers had not received any analgesia. CONCLUSIONS: The present data indicate that several types of analgesia given to the mother during labor may interfere with the newborn's spontaneous breast-seeking and breastfeeding behaviors and increase the newborn's temperature and crying.

Adult↗