Cri-du chat Syndrome Presentation Possible Sources

5 Apr

Well, it’s that time again–last projects for the impeding close of semester. 40-ish more days to go. I think anyway, my counting just went astray just now. But not too much longer. Which thank God no more tests. But too bad, no more class to keep me out of work. I’ll deal with that issue later.

For now–legit sources I can print and look for at the library.

1]

Volume 55, Issues 6–7, June–July 2012, Pages 433–436

Abstract

We report an 11-year-old girl for whom the diagnosis of cri du chat syndrome (CdCS) was made during a genetic investigation of childhood apraxia of speech. The patient presented with the classic chromosome 5 short arm deletion found in CdCS. The microdeletion, characterised using aCGH (array Comparative Genomic Hybridisation), was 12.85 Mb, overlapping the 5p15.2 and 5p15.3 critical regions. CdCS is typically associated with severe mental retardation while this patient had normal intellectual performance, confirmed by normal results from categorisation tasks. This mild phenotype was assessed using a comprehensive cognitive battery. Language evaluation showed normal receptive vocabulary scores, in contrast with obvious oro-facial dyspraxia. Disabled fine motor skills were confirmed as well as weak visuo-spatial reasoning abilities. In conclusion, fine cognitive assessment may be worthwhile for patients with CdCS since good intellectual functioning may be masked by severe speech and gestural dyspraxia, thus requiring specific teaching and rehabilitation strategies.

http://www.sciencedirect.com/science/article/pii/S176972121200105X

2]

Volume 26, Issue 6, November 2012, Pages 821.e1–821.e3

Obstacles to Communication in Children With Cri du Chat Syndrome

Summary

Background

Cri du chat syndrome (CCS) is a genetic disorder resulting from the deletion of the short arm of chromosome 5. Perhaps the most distinctive characteristic of this syndrome is the congenital high-pitched cry, which frequently brings these patients to the attention of an otolaryngologist. Speech and language development in children with CCS is notable for a reduced receptive vocabulary and a profound deficit in expressive language. Currently, no clear guidelines have been established for the treatment of the speech and language difficulties exhibited by these patients. In this article, we present a case report and discuss the current literature regarding the challenges to effective communication in CCS.

Methods

Case report.

Case

We present a 7-year-old girl with CCS who sought help to improve her ability to communicate. The patient presented with a persistent high-pitched voice unchanged since birth and a breathy dysphonia. Findings on examination were significant for an abnormally oriented larynx with atrophic vocal folds. She continues to undertake intensive speech therapy to assist in her language development.

Conclusion

CCS is a genetic disorder that universally results in profound deficits in expressive speech. Although patients with CCS commonly present with a high-pitched voice and marked laryngeal abnormalities, they are unlikely to benefit from surgical intervention. Speech and language therapy, including augmentative communication devices, may enhance effective communication and improve the quality of life of these patients.

http://www.sciencedirect.com/science/article/pii/S0892199712000975

3]

The Journal of Genetic Psychology: Research and Theory on Human Development

Volume 174Issue 1, 2013

Translator disclaimer

Narrative Discourse and Sociocognitive Abilities of a Child With Cri-du-Chat Syndrome

Stefania AlbanoaLaura PiccardibcMaria Rosa PizzamigliocCristino Volpec & Simonetta D’Amicoa 

pages 51-72

Abstract

ABSTRACT. The authors investigated narrative competence, sociocognitive abilities and emotion comprehension in a 9-year-old child (FS) with Cri-du-Chat Syndrome (CdCS) who had only a mild mental delay and relatively preserved language. Considering that the production of narratives is a major step in development and in the acquisition of learning skills related to conceptual, linguistic, structural, and pragmatic knowledge, and in the development of psychological lexicon, that is, the ability to use theory of mind (ToM) processes also in atypical development, this case provided an opportunity to study aspects of this genetic syndrome never investigated before. The authors found that the child’s performance on different stories was comparable to that of chronological age controls for several narrative and emotional competences and even better than that of mental age controls. However, her ability to reason was still incomplete according ToM; in fact, FS was able to express her mental states, but she was unable to understand emotions, specifically mixed emotions. This finding suggests that in CdCS children with a well-developed language narrative and emotional competence could be a point of strength for improving their social skills with important effects on their familiar and school life. Also in CdCS children with the typical poor developed language, the narrative discourse could be introduced in their communication by means of any type of alternative language (i.e., sign language or augmentative and alternative communication) to improve their social abilities and to reduce behavioral disorders due to the difficulty in expressing their personal experiences.

http://www.tandfonline.com/doi/abs/10.1080/00221325.2011.639409

4]

Volume 31, Issue 1, January–February 1998, Pages 73–81

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

http://www.sciencedirect.com/science/article/pii/S002199249700052X

5]

Arch Dis Child 1996;75:448-450 doi:10.1136/adc.75.5.448
  • Research Article

Developmental and behavioural characteristics of cri du chat syndrome.

6]

The American Journal of Human Genetics

Volume 76, Issue 2, February 2005, Pages 312–326

High-Resolution Mapping of Genotype-Phenotype Relationships in Cri du Chat Syndrome Using Array Comparative Genomic Hybridization

http://www.sciencedirect.com/science/article/pii/S0002929707625828

7]  Genotype-Phenotype by Cornish

http://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.1997.tb07377.x/pdf

– (CDC), first described by the French paediatrician Lejeune in 19631 who coined the term ‘cri du chat’ (‘cry of the cat’)

Early epidemiological studies estimated the prevalence of CDC at 1 in 50 000 live births,13

-however, recent estimates suggest a greater incidence of 1 in 37 000 live births.14

-It has even been suggested that among the general population with learning disability the prevalence could be as high as 1 in 350.13

-A de novo deletion is present in 85% of cases while 10 to 15% of cases are familial with the overwhelming majority (>90%) due to parental translocations.

Niebuhr13 was the first researcher to identify the specific chromosomal region implicated in the syndrome as 5p15.1-5p15.3 using cytogenetic analysis

-characteristic cat-like cry has been mapped to the proximal part of 5p15.3

-speech delay to the distal part of 5p15.3

-severe intellectual impairment to 5p15.2.

need for accurate differentiation between 5p deletions that result in the typical CDC phenotype and those that result in a milder CDC phenotype and a much more optimistic developmental prognosis

range of physical abnormalities vary according to the size of chromosomal deletion present

-microcephaly, micrognathia, rounded face, macrostomia, hypertelorism with downward sloping palpebral fissures, low set ears, broad nasal ridge, and short neck

-Structural laryngeal abnormality and hypotonia are thought to be responsible for the cat-like cry (these latter features in addition to high rates of cardiorespiratory abnormalities may present particular problems with anaesthetic procedures).

-advancing age = long face, scoliosis, and macrostomia.

-Female fertility is unaffected

-The male to female ratio is 0.73:1

-children with CDC are very prone to develop recurrent upper-respiratory tract infections, otitis media, and dental problems

-children with typical CDC, IQ predominantly fell into the moderate to severe learning disability range. However, verbal IQ does appear to develop with age, reaching a plateau at about 10 years

-CDC displaying better receptive than expressive language

-development of behavioural interventions which emphasize non-verbal commands and language might serve to reduce the high rates of behavioural problems

-children with atypical CDC = specific verbal–performance discrepancy in the direction of reduced verbal skills, and in particular delayed expressive language skills in a family of siblings with a deletion of 5p15.3 but which displayed minimal intellectual impairment

Self-injurious behaviour appears to be very common in CDC.  Three core behaviours: head banging, hitting the head against body parts, and self-biting –all reaching a plateau in late childhood and then remaining constant throughout early adulthood.

In CDC, for example, the absence of expressive language27 and substantially reduced communicative skills33 may result in challenging behaviours that compensate for the lack of alternative, more appropriate means of communication

over 90% of children with CDC were described by their families as demonstrating troublesome hyperactive behaviour and, of these, 70% fulfilled the diagnostic criteria for attention-deficit–hyperactivity disorder (ADHD)

8]  Cognitive Funct.  (Cornish. . .Pigram)

individuals with deletions slightly distal (5p15.3) to the critical region will present with the cat-like cry but will not have any of the main clinical features or severe levels of delay that are characteristic of typical CDCS

The Full-Scale IQ of four children fell below the floor level of 40. The IQs of the remaining 22 children ranged from 40 to 57, with a mean of 47.81.

three children failed to score above the floor of the Verbal scale, with the remaining children obtaining Verbal IQs within the 46 to 63 range (mean 52.3).

two children failed to score above the floor for this scale with the remaining children obtaining Performance IQs within the 44 to 58 range (mean 50.3 

Articulation:  Misarticulations were very common, with all 26 children falling below the 10th centile for their age range.  Errors  included sound substitutions and frequent distortion of vowels and consonants.

some evidence of an age-related change in Verbal IQ (but not Performance IQ or Full-Scale IQ), with an increase until about 8 years of age. By 10 years, however, development appears to have reached a plateau

– finding indicates that early childhood may be a crucial period in the development of verbal skills in children with CDCS and that early timing of intervention strategies could be a key to maximizing their potential.

In contrast to receptive skills that appear to reach an age-equivalent score of over 4 years in 24 of the children, expressive skills barely reach an ageequivalent of 2 years, with the majority scoring below this age level.

articulation skills were also severely impaired with many children able to recognize a test object (e.g. ball, house, lamp) but unable to articulate the correct sounds to pronounce its name

A possible explanation is some structural or functional abnormality related to the larynx (weakness, dysmorphism) that has inhibited or delayed the establishment of early vocalization.

lack of expressive language in children with CDCS does not seem to impede communication to the extent that one would have predicted

over two-thirds of children were able to communicate their needs using non-verbal methods.

-Additionally, Carlin reported that 50% of the US sample were able to use sign language to communicate basic needs.

interventions which emphasize non-verbal commands and language might serve to reduce the high rates of behavioural problems that currently characterize this group.

http://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.2002.tb00312.x/pdf

9]  Maladaptive Behavior (Dykens)

-hyperactivity most freq & sig factor

-aggression, tantrums

-ASD feat + social withdrawal more common in P w/translocations (stat sig) less communicative P, fewer gestures, less emotional rxn to others

10% cases associated w/translocations

-friendly, happy demeanor

-used ABC scales for behavior

-no gender dif. were found in maladaptive behavior

-hyperactivity was the highest maladaptive trait

-high irritability

-only maladaptive behavior correlation stat sig w/age was inappropriate speech.

lower cognition associated w/stereotypic behaviors and increased irritability

-44 of 77 respondants were free of meds–>no sig dif b/w P on/off meds in ABC scores.

-74-85% on the test sample had hyperactivity; pervasive across ages, cognitive funct, translocation vs deletion,

-prior medication (txmt for hyperactivity) users showed more sterotypical, self-injurious, and aggressive behaviors.

-aggression toward others in 70% of their sample

-67% had tantrums

-61% self-injured

-55% were irritable

– 52% had stereotypies

http://onlinelibrary.wiley.com/doi/10.1111/j.1469-8749.1999.tb00595.x/abstract

10]  Speech and language development in cri du chat syndrome: A critical review

2008, Vol. 22, No. 6 , Pages 443-457 (doi:10.1080/02699200801892108)

-Regarding phonetics and phonology, substitutions, omissions, and distortions are frequent;

-consonant inventories are small;

-syllable shapes are restricted;

-vowels are variable and overlap with each other acoustically.

-the need for more research is considerable
.

http://informahealthcare.com/doi/abs/10.1080/02699200801892108

11]

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

  • Ohio State University, USA
  • Marshall University, USA

Abstract

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 occured 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.

http://www.sciencedirect.com/science/article/pii/002199249190030M

12]

Volume 26, Issue 6, November 2012, Pages 821.e1–821.e3

Obstacles to Communication in Children With Cri du Chat Syndrome

Summary

Background

Cri du chat syndrome (CCS) is a genetic disorder resulting from the deletion of the short arm of chromosome 5. Perhaps the most distinctive characteristic of this syndrome is the congenital high-pitched cry, which frequently brings these patients to the attention of an otolaryngologist. Speech and language development in children with CCS is notable for a reduced receptive vocabulary and a profound deficit in expressive language. Currently, no clear guidelines have been established for the treatment of the speech and language difficulties exhibited by these patients. In this article, we present a case report and discuss the current literature regarding the challenges to effective communication in CCS.

Methods

Case report.

Case

We present a 7-year-old girl with CCS who sought help to improve her ability to communicate. The patient presented with a persistent high-pitched voice unchanged since birth and a breathy dysphonia. Findings on examination were significant for an abnormally oriented larynx with atrophic vocal folds. She continues to undertake intensive speech therapy to assist in her language development.

Conclusion

CCS is a genetic disorder that universally results in profound deficits in expressive speech. Although patients with CCS commonly present with a high-pitched voice and marked laryngeal abnormalities, they are unlikely to benefit from surgical intervention. Speech and language therapy, including augmentative communication devices, may enhance effective communication and improve the quality of life of these patients.

http://www.sciencedirect.com/science/article/pii/S0892199712000975

I went to the library with info to find 3 journal articles–and the UNIVERSITY library didn’t carry 2 of the journals at all.  And the third, they had, but only up to 2008.  And my article was 2012. . .  So back to the drawing board on that.  In brighter news, Google Docs Rocks!!!  My partner and I can construct the ppt simultaneously–at home.  I love doing homework in my jammies 🙂

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