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PubMed1972

Neurological abnormalities in the 'cri-du-chat' syndrome.

An unusual case of the cri-du-chat syndrome is described in a 6½ year old boy, who, as well as attacks of stridor and choking, showed disorders of spatial perception and cerebellar signs in the form of nystagmus, clumsiness of the hands, and ataxia. Pyramidal signs were also present. He was only mildly retarded mentally. Psychological testing showed that he had a severe deficit for number processing, and also constructional apraxia. Surprisingly, his vocabulary was quite good, as was his reading capacity. Chromosome analysis showed a very small deletion of the short arm of the group B chromosome. In infancy this diagnosis may be suspected because of the high-pitched cry and attacks of stridor and choking. In late childhood, when the signs may be only of a neurological disorder, its recognition may be difficult without confirmation from chromosome studies. The neurological features of this disease are reviewed.

Cerebrospinal Fluid Proteins↗

PubMed1989

Is the syndrome of pathological laughing and crying a manifestation of pseudobulbar palsy?

A case of angiographically occult brainstem vascular malformation presenting solely with pathological laughing and crying is reported. Although this emotional syndrome has been seen in association with several different pathological entities, review of the literature failed to identify its occurrence as the only clinical expression of angiographically occult brainstem vascular malformation, or as a solitary symptom in any disease. Our data suggest that pathological laughing and crying can occur without any other manifestation of pseudobulbar palsy. An attempt is made to correlate this patient's clinical and radiological findings. This case was treated by stereotactic Bragg-peak proton beam therapy.

Adult↗

PubMed1979

A tdic(5;15)(p31;p11) chromosome showing variation for constriction in the centromeric regions in a patient with the cri du chat syndrome.

Some dicentric chromosomes show only one primary constriction at metaphase and behave in cell division as if they are monocentric. The few previous reports of tdic (translocation dicentric) chromosomes showing one morphologic indicate that among the cells of an individual the same centromere consistently shows the primary constriction. The present case deals with a tdic(5;15)(p13;p11) chromosome that is an exception to this pattern. Scoring 98 GTG-, C-, and QFQ-banded metaphases specifically for primary constrictions revealed 15 (15%) containing a tdic chromosome with a single primary constriction. Among these chromosomes, 8 (8%) were at the chromosome 15 centromere and 7 (7%) were at the chromosome 5 centromere. The remaining 83 (85%) tdic chromosomes showed two primary constrictions. We analyzed a total of 172 metaphases from peripheral blood, and all except 3 (1.7%) contained the tdic chromosome. Among these three cells, the tdic chromosome was broken in two and absent in one, which indicates that there was some unstable separation of this dicentric in cell division. In two metaphases, there was a chromatid gap at the site of one centromere. Possibly, the absence of certain primary constrictions was associated with deletion of centromeres. This mechanism may be a continual source for additional centromere inactivation during the life of this patient. This case demonstrates that for some dicentrics either centromere may become nonfunctional and inactivation can occur more than once within an individual. The karyotype of this patient was 45,XX,tdic(5;15)(p31;p11). Thus, she was monosomic for about 3/4 of the chromosome 5 short arm. Clinically, this infant had a shrill catlike cry and facies of the cri du chat syndrome.

Centromere↗

PubMed1996

[The progression of a case in the cri-du-chat syndrome: otolaryngological, cognitive and language characteristics].

This article presents the results of the ORL, cognitive and speech examinations of a boy aged 12 years, 9 months with cat cry syndrome. The laryngeal function has normalized but a small mandibular deficiency persists. The cognitive function corresponds to a mental age of less than 3 years with a complete blockade for abstraction but a good adaptation for concrete and practical situations. The linguistic examination was performed in two complementary pragmatic contexts: standard testing and semi-induced play. The referential and expressive functions are relatively good but with a poor adaptation to the interlocutors. The cognitive-semantic function of J.M. in naming and for space relation markers corresponds to about 4 1/2 years, which is better than what could be expected based on his cognitive level on the intelligence scales. Nevertheless, the child's syntactic characteristics are those of a 3-year-old child. Therefore the disparity between the cognitive-semantic, the syntactic and the nonlinguistic cognitive functions is negligible. Only the pragmatic function of the child remains much weaker than that achieved for the other facets of his language. The linguistic results of this case of cat cry syndrome are compared with those of children of the same age and mental level with trisomy 21 or other moderate mental handicaps.

Child↗

PubMed2000

Treatment of pathological affect: variability of response for laughter and crying.

Pathological laughing and crying (PLC) is increasingly recognized to accompany diverse neurologic conditions, although it remains poorly understood. The authors describe 3 cases of amyotrophic lateral sclerosis (ALS) with an unusual change from a predominance of pathological crying to laughter following drug treatment. Possible explanations for this phenomenon are discussed.

Aged↗

PubMed2004

Pathological laughing and crying following traumatic brain injury.

The authors examined the prevalence and clinical correlates of pathological laughing and crying (PLC) using the Pathological Laughter and Crying Scale (PLAC) in 92 consecutive patients with acute symptoms 3, 6, and 12 months after traumatic brain injury (TBI). The prevalence of PLC during the first year after TBI was 10.9%. Compared to patients without PLC, patients with PLC had significantly more depressive, anxious, and aggressive behaviors and had poorer social functioning. Additionally, PLC was associated with the presence of anxiety disorder, and focal frontal lobe lesions, especially in the lateral aspect of the left frontal lobe. Findings revealed that prefrontal regulation of limbic circuits may be involved in the pathophysiology of this disturbed emotional expression.

Adolescent↗

PubMed1987

Infant colic, distress, and crying.

The literature regarding infant colic is critically reviewed. Although there have been a number of theories proposed as to etiology of colic, the literature is characterized by difficulties in definition, methodologic problems, and numerous claims as to both etiology and management that are anecdotal. Infant colic is best conceptualized as the end result of a complex transaction between the infant and his environment, with multiple factors responsible for the crying and distress of an infant. The most important factors in appropriate intervention are a physician's receptivity and sensitivity toward the stressed mother, together with an interested and practical approach to providing adequate support while delineating the individual stresses acting on both mother and baby. Future research is needed to delineate markers for those subgroups of infants who may present with crying as a manifestation of specific clinical situations.

Animals↗

PubMed2002

Persistent infant crying and hyperactivity problems in middle childhood.

OBJECTIVE: To investigate whether persistent infant crying is associated with an increased risk for externalizing behavior problems in childhood. METHODS: Sixty-four infants who were referred for persistent crying in infancy (PC; mean age: 3.8 +/- 1.3 months) were reassessed at 8 to 10 years of age and compared with 64 classroom controls (CC). The major outcome measure was pervasive hyperactivity or conduct problems defined as parent, child, and teacher ratings that across informants were within the borderline/clinical range according to the Strengths and Difficulties Questionnaire (SDQ). Ratings of other behavior problems, parent ratings of temperament, and teacher assessment of academic achievement were also obtained. RESULTS: Ten (18.9%) of 53 PC had pervasive hyperactivity problems (child, parent, and teacher reported) compared with 1 (18.9%) of 62 CC (odds ratio: 14.19 [1.75-114.96]). Parents (29 [45.3%] of 64 vs 11 [17.2%] of 64; 4.00 [1.77-9.01]) and children (30 [46.9%] of 64 vs 17 [26.6%] of 64; 2.44 [1.16-5.12]) but not the teachers reported more conduct problems. Parents of PC rated the temperament of their children to be more negative in emotionality (PC mean: 3.0 +/- 1.0; CC: 2.4 +/- 1.0; effect size: 0.6) and difficult-demanding (PC mean: 5.2 +/- 1.3; CC: 6.3 +/- 0.9; effect size: 1.0). Academic achievement was reported by teachers to be significantly lower for PC than CC, in particular for those children with pervasive hyperactivity problems. CONCLUSIONS: Infants who are referred for PC problems and associated sleeping or feeding problems are at increased risk for hyperactivity problems and academic difficulties in childhood.

Achievement↗

PubMed1986

A new baby-alarm based on tenseness of the cry signal.

Present-day conventional baby-alarms for hearing-impaired parents do not convey information about how the baby is feeling (happy, crying, or distressed). Consequently, the parent is forced to go to the baby to weigh up the situation visually. A new baby-alarm, FreDe 85, which determines the tenseness of the cry signal, has been tested by 10 deaf families with babies in the age range 3 to 21 months. The test families compared the illuminated pictures on the panel of the baby-alarm with the baby's situation. The parents could observe significantly different distributions of illuminated pictures in the three situations. Some families living in multi-storey flats experienced false alarms in the night, indicating the need to place the microphone closer to the baby.

Acoustics↗

PubMedDate not supplied

Lensectomy in an infant with cri du chat syndrome and cataracts.

We report an 11-month-old infant with cri du chat syndrome and cataracts. The chromosomal abnormality was transmitted via a balanced 5/11 translocation from a phenotypically normal mother. The child underwent bilateral cataract extraction and was fitted with extended wear contact lenses. Congenital cataracts may be associated with cri du chat syndrome.

Cataract↗

PubMed2006

Diagnosis and management of pathological laughter and crying.

Patients with various neurologic disorders exhibit exaggerated or inappropriate episodes of laughter, crying, or both without an apparent motivating stimulus or in response to stimuli that would not have elicited such an emotional response before the onset of the underlying disease. During these episodes, patients have difficulty controlling their emotional expression according to the contextual information. In contrast, patients with mood disorders have a pervasive and sustained change in their emotional experience and thus exhibit spells of laughter or crying because of an underlying mania or depression. This article focuses on the clinical presentation, diagnosis, prevalence, and proposed pathophysiological mechanisms of and available treatment options for this clinical phenomenon.

Affective Symptoms↗

PubMed1976

Pseudohypoparathyroidism associated with cri du chat syndrome.

A case is reported in which features of pseudohypoparathyroidism were found in association with the cri du chat syndrome. This association may throw some light on the localization of the chromosomal abberration which underlies pseudohypoparathyroidism, since deletion of the short arm of chromosome 5 has been clearly established in the cri du chat syndrome.

Adolescent↗

PubMed1999

Cri du chat and Turner syndrome features in a newborn girl with an unbalanced 45,X,psu dic(5;X)(p15.2;p22.1) karyotype: FISH and replication banding studies.

A newborn girl with features of Turner and Cri du chat syndromes was found to have a pseudodicentric 5;X chromosome. Her karyotype was 45,X, psu dic(5;X)(p15.2;p22.1). The net result was monosomy for 5p15.2-pter and Xp22.1-pter. Fluorescence in situ hybridization (FISH) showed the Cri du chat region was deleted. Replication banding studies to assess the X-inactivation pattern found only the X portion of the pseudodicentric chromosome to be late replicating without any apparent spread of inactivation into chromosome 5 segment. There are only two cases reported with a dicentric X; autosome. In this paper, we compare the cytogenetics of the present case and those in the literature.

Chromosome Banding↗

PubMed2000

[Congenital malformations and asymmetric crying facies].

Asymmetric crying face (ACF) means a congenital anomaly caused by either agenesis or hypoplasia of the depressor anguli oris muscle. This defect is on only one corner of the mouth since the birth, affects lower lip, and is particularly evident when the newborn is crying. Lesions at different levels of seventh nerve can cause similar and confounding weakness of the facial expressions. But, in case of ACF, forehead wrinkling, eye closure, nasolabial fold depth, and tearing are normal and symmetric functions. ACF can be either as single plain aesthetic defect or as early only index of several congenital malformations, especially of heart and genitourinary tract. Our study recognized 80 ACF cases in 11,643 newborn's population during a 34 consecutive month period: 34 on right side and 46 on left side of the mouth. ACF population presented a higher malformative risk than general population (on average 4.73% versus 3.3% of our base-line). Congenital anomalies were found more frequently associated with left ACF (3 versus 1, for a general rate of 6.52% versus 2.94%), on the same body side when anomaly was affecting pair organs. Those 3 congenital malformations were on genitourinary tract, 2 of which detected by ultrasonography. We did not find any congenital cardiac defects. According to opinion of numerous other researchers, we think ACF is not to be considered a simple aesthetic anomaly: therefore, in front of all ACF cases, a thorough search for associated anomalies should be performed.

Crying↗

PubMed2003

Neuroimaging of serotonin transporters in post-stroke pathological crying.

Pathological crying (PC) is a neuropsychiatric disorder characterized by an excessive tendency towards crying after brain damage. To elucidate the role of serotonin neurotransmission for PC, a pilot study was performed using single photon emission computed tomography with [123I]beta-CIT to estimate central (midbrain/pons and thalamus/hypothalamus) serotonin transporter (SERT) densities in 15 stroke patients who did or did not have PC. SERT binding ratios in midbrain/pons were significantly lower in the PC subgroup.

Brain↗

PubMedDate not supplied

Asymmetric crying facies associated with congenital hypoparathyroidism and 22q11 deletion.

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 and less frequently involving the genitourinary, musculoskeletal, cervicofacial, respiratory, and rarely, the endocrine system. CATCH 22 is a medical acronym for cardiac defects, abnormal facies, thymic hypoplasia, cleft palate and hypocalcemia and a variable deletion on chromosome 22q11. The deletion within chromosme region of 22q11 may occur in patients with dysmorphologic and cardiological syndromes: DiGeorge syndrome, velo-cardiofacial syndrome and conotruncal anomaly face syndrome. We report a newborn infant who had asymmetric crying facies associated with congenital hypoparathyroidism, severe neonatal hypocalcemia and tetralogy of Fallot. Genetic confirmation of chromosome 22q11 deletion was made.

Chromosome Deletion↗

PubMed2004

A review of 35 cases of asymmetric crying facies.

A review of 35 cases of asymmetric crying facies: Congenital asymmetric crying facies (ACF) is caused by congenital hypoplasia or agenesis of the depressor anguli oris muscle (DAOM) on one side of the mouth. It is well known that this anomaly is frequently associated with cardiovascular, head and neck, musculoskeletal, respiratory, gastrointestinal, central nervous system, and genitourinary anomalies. In this article we report 35 ACF patients (28 children and 7 adults) and found additional abnormalities in 16 of them (i.e. 45%). The abnormalities were cerebral and cerebellar atrophy, mega-cisterna magna, mental motor retardation, convulsions, corpus callosum dysgenesis, cranial bone defect, dermoid cyst, spina bifida occulta, hypertelorism, micrognatia, retrognatia, hemangioma on the lower lip, short frenulum, cleft palate, low-set ears, preauricular tag, mild facial hypoplasia, sternal cleft, congenital heart defect, renal hypoplasia, vesicoureteral reflux, hypertrophic osteoarthropathy, congenital joint contractures, congenital hip dislocation, polydactyly, and umbilical and inguinal hernia. Besides these, one infant was born to a diabetic mother, and had atrial septal defect and the four other children had 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance, respectively Although many of these abnormalities were reported in association with ACF, cerebellar atrophy, sternal cleft, cranial bone defect, infant of diabetic mother, 4p deletion, Klinefelter syndrome, isolated CD4 deficiency and Treacher-Collins like facial appearance were not previously published.

Abnormalities, Multiple↗

PubMedDate not supplied

[Infant crying--a safety risk?].

A Dutch study is described, in which the occurrence of potentially detrimental parental actions induced by infant crying were assessed and thereafter related to various factors, including the parents' judgment that the crying was "excessive". commentary in the same Lancet issue questions whether this might be interpreted as a "blaming of the victim" process. Official Swedish and international statistics on child abuse, especially a recent UNICEF report, are summarized. The co-occurrence of spouse and child abuse is briefly discussed. Southall and co-workers' report on covert video recordings of life threatening child abuse is related, as well as some of the public reactions following it, and a proposed new categorization of child abuse.

Child Abuse↗