Effects of Oral Stimulation Intervention in Newborn Babies with Cri du Chat Syndrome: Single-Subject Research Design.

The purpose of this study is to treat dysphagia in a newborn baby with cri du chat syndrome using an oral stimulation intervention and to examine its effects. The subject of this study was a baby born 2 weeks prematurely. Since birth, his oxygen saturation (SaO2) decreased while feeding, and he had difficulty with mouth feeding. Thus, an NG feeding tube was inserted, and dysphagia treatment was initiated on the sixth day after birth. A baseline phase and an intervention phase were performed using an AB design. The oral stimulation intervention was not performed in the baseline phase, as only nonnutritive sucking training using a rubber pacifier was used during the baseline phase. During the intervention phase, nonnutritive sucking training and oral stimulation intervention were simultaneously conducted. After the intervention period, daily oral milk intake and intake per feeding of the subject noticeably increased. The oxygen saturation while feeding rose over 90% on average, and the baby did not present with hypoxia. The oral stimulation intervention provided prior to feeding resulted in highly positive effects, including induced normal development of the baby, stimulation of his transition from the NG feeding tube to bottle feeding, increased oxygen saturation, and a shortened hospital stay.

Mental Health and Well-Being in Mothers of Children With Rare Genetic Syndromes Showing Chronic Challenging Behavior: A Cross-Sectional and Longitudinal Study.

It is well documented that mothers of children with challenging behavior (CB) experience elevated levels of stress and that this persists over time, but less is known about the experience of mothers of children with rare genetic syndromes. This article describes 2 studies, 1 cross-sectional and 1 longitudinal, comparing well-being in mothers of children with Angelman, Cornelia de Lange and Cri du Chat syndrome who have either shown chronic CB ( n = 18) or low/no CB ( n = 26) in the preceding 7 years. The presence of chronic, long-term CB increased maternal stress but not depression or anxiety, and did not influence positive well-being. Stress relating specifically to their child's genetic syndrome reduced with age, highlighting the need for further exploration in this area.

Contrasting age related changes in autism spectrum disorder phenomenology in Cornelia de Lange, Fragile X, and Cri du Chat syndromes: Results from a 2.5 year follow-up.

Little is known about the way in which the characteristics of autism spectrum disorder (ASD) develop and manifest across the age span in individuals with genetic syndromes. In this study we present findings from a two and a half year follow-up of the characteristics associated with ASD in three syndromes: Cornelia de Lange (CdLS), Fragile X (FXS), and Cri du Chat (CdCS). Parents and carers of 251 individuals (CdLS=67, CdCS=42, and FXS=142) completed the Social Communication Questionnaire (SCQ) at Time 1 (T1) and again two and a half years later (T2). The FXS and CdLS groups were more likely to meet the cut-offs for both autism and ASD and show greater severity of ASD related behaviors, at both T1 and T2, compared to the CdCS group. Older individuals (>15yrs) with CdLS were more likely to meet the cut off for ASD than younger individuals (≤15 yrs) with the syndrome and more likely to show greater severity of social impairments. In FXS repetitive behaviors were found to become less prominent with age and in CdCS social impairments were reported to be more severe with age. There were no significant changes between T1 and T2 in the severity of ASD characteristics in the CdCS and CdLS groups. The FXS group showed significantly fewer repetitive behaviors and less severe impairments in social interaction over this time frame. The findings suggest that while there may be similarities in overall severity and presentation of ASD characteristics in CdLS and FXS, these characteristics have divergent patterns of development within these groups.

The prevalence of aggression in genetic syndromes: a review.

Research into behavioural phenotypes identifies both environmental and organic factors as influencing aggression in children and adults with genetic disorders associated with intellectual disability. However, in contrast to self-injury there is a paucity of research that compares aggression across relevant syndromes. The primary aim of this review is to examine the association between aggression and genetic syndromes by analysis of prevalence studies. The review also examines the literature on the form of the behaviour and influence of environmental factors. Results imply that certain syndrome groups (Cri du Chat, Smith-Magenis, Prader-Willi, Angelman, Cornelia de Lange, and Fragile X syndromes; estimates over 70%) evidence a stronger association with aggression than others (e.g. Williams and Down syndromes; estimates below 15%). However, the strength of association is difficult to quantify due to methodological differences between studies. The results from examining form and environmental influences highlight the importance of phenotype-environment interactions. Research employing group comparison designs is warranted and future work on the assessment and intervention of aggression in genetic syndromes should consider the importance of phenotype-environment interactions.

Narrative discourse and sociocognitive abilities of a child with Cri-du-Chat syndrome.

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.

Obstacles to communication in children with cri du chat syndrome.

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.

Childhood apraxia of speech without intellectual deficit in a patient with cri du chat syndrome.

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.

Association between fatigue and autistic symptoms in children with cri du chat syndrome.

In the current study, the authors examined whether the fatigue level of children diagnosed with cri du chat syndrome was associated with the expression of autistic symptoms. Sixty-nine children with cri du chat syndrome were compared with 47 children with moderate to severe intellectual disabilities who did not differ on intellectual severity. Participants were assessed using the Infant Sleep Questionnaire ( J. M. B. Morrell, 1999 ) for fatigue-level rating and the Childhood Autism Rating Scale ( E. Schopler, R. J. Reichler, & B. R. Renner, 1988 ) for autism-level rating. In support of the authors' hypothesis, results indicated that children who exhibited high levels of fatigue were more likely to express high levels of autistic symptoms. Contrary to the authors' hypothesis, children in the comparison group who exhibited high levels of fatigue conferred the greatest vulnerability to the expression of autistic symptoms.

Psychological well-being in parents of children with Angelman, Cornelia de Lange and Cri du Chat syndromes.

BACKGROUND: The current study focuses on mothers and fathers of children with three rare genetic syndromes that are relatively unexplored in terms of family experience: Angelman syndrome, Cornelia de Lange syndrome and Cri du Chat syndrome. METHOD: Parents of children with Angelman syndrome (n =15), Cornelia de Lange syndrome (n = 16) and Cri du Chat syndrome (n = 18), and a matched comparison group of parents of children with autism and intellectual disabilities (n = 20) completed questionnaires on both psychological distress (stress, anxiety, depression) and positive psychological functioning. RESULTS: Parents of children with Angelman syndrome consistently reported the highest levels of psychological distress, and parents of children with Cornelia de Lange syndrome the lowest, with parents of children with Cri du Chat syndrome and autism scoring between these two. Positive psychological functioning was similar across the four aetiology groups. CONCLUSIONS: Parents of children with rare genetic syndromes are at risk for high levels of stress and mental health problems. Methodological issues and the practical applications of these results are discussed.

A description of adaptive and maladaptive behaviour in children and adolescents with Cri-du-chat syndrome.

BACKGROUND: Psychological tests can be useful to record adaptive and maladaptive behaviours of children with intellectual disability. The objective of this study was to describe the adaptive and maladaptive behaviour of children and adolescents with Cri-du-chat syndrome. METHODS: The sample consisted of 10 children and adolescents with Cri-du-chat syndrome (mean chronological age=11.3 years, mean mental age=18 months). The developmental quotient was calculated through the Psychoeducational Profile - Revised. An observational protocol was used to record adaptive and maladaptive behaviours. RESULTS: The number of maladaptive behaviours observed was different among participants. However, all of them had high rates of adaptive behaviours, such as rule-following. CONCLUSIONS: These results, though preliminary, justify that we continue to think about the need for psychoeducational interventions aimed at stimulating the repertoire of adaptive behaviours, in people with Cri-du-chat syndrome.

The prevalence and phenomenology of self-injurious and aggressive behaviour in genetic syndromes.

BACKGROUND: Self-injurious and aggressive behaviours are reported as components of some behavioural phenotypes but there are few studies comparing across syndrome groups. In this study we examined the prevalence of these behaviours and the associated person characteristics in seven genetic syndromes. METHODS: Questionnaire data on self-injury and aggression, mood, hyperactivity, autism spectrum disorder and repetitive behaviour were collected on Angelman (AS, n=104), Cornelia de Lange (CdLS, 101), Cri du Chat (CdCS, 58), Fragile X (FXS, 191), Lowe (LS, 56), Prader-Willi (PWS, 189) and Smith-Magenis (SMS, 42) syndromes. RESULTS: A significantly higher prevalence of self-injury was evident in CdCS, CdLS, FXS, PWS, LS and SMS. The prevalence of aggression was significantly heightened in AS and SMS. Self-injury was associated with repetitive and impulsive behaviour in CdLS, FXS, PWS and LS. Impulsivity and overactivity were significantly higher in those showing aggression across all syndrome groups. CONCLUSIONS: These data quantify the risk for self-injury and aggression in the syndromes studied with implications for early intervention. The associations between these behaviours and person characteristics both within and between syndromes warrant further research.

Sign communication in Cri du chat syndrome.

UNLABELLED: This paper presents findings from a study on the use of sign supported Norwegian (SSN) in two individuals with Cri du chat syndrome (CCS). The study gives a first account of some selected aspects of production and intelligibility of SSN in CCS. Possible deviance in manual parameters, in particular inter- and/or intra-subject variation in the use of handshape is investigated. Second, the question is addressed to what extent the isolated signs and isolated speech are intelligible and to what extent the combination of signs and speech in SSN contributes to a better intelligibility compared to each part in isolation. Results showed inter-subject variation, as well as individual consistency of deviancy in phonetic handshape parameters. Both participants were slightly more intelligible in their sign articulation when signs and speech production were analyzed separately. Importantly, intelligibility was greatly increased when signs and speech were combined. This emphasizes the importance of SSN for facilitating communication in children with CCS. LEARNING OUTCOMES: The reader will be able to identify Signed Supported Communication as an artificial communication form, which can be used as an aid for language development in different groups of children, including children suffering from Cri du chat syndrome. The paper shows the reader to recognize that although children with Cri du chat do not produce words or signs accurately, their intelligibility can improve when they use simultaneous combinations of words and signs.

The prevalence and phenomenology of repetitive behavior in genetic syndromes.

We investigated the prevalence and phenomenology of repetitive behavior in genetic syndromes to detail profiles of behavior. The Repetitive Behaviour Questionnaire (RBQ) provides fine-grained identification of repetitive behaviors. The RBQ was employed to examine repetitive behavior in Angelman (N = 104), Cornelia de Lange (N = 101), Cri-du-Chat (N = 58), Fragile X (N = 191), Prader-Willi (N = 189), Lowe (N = 56) and Smith-Magenis (N = 42) syndromes and individuals with intellectual disability of heterogeneous aetiology (N = 56). Repetitive behavior was variable across syndromes. Fragile X syndrome scored highly on all subscales. Angelman syndrome demonstrated a significantly lowered probability for most behaviors. Prader-Willi, Cri-du-Chat and Smith-Magenis syndrome evidenced unique profiles of repetitive behavior. There is extreme heterogeneity of repetitive behavior across genetic syndromes, highlighting syndrome specific profiles.

Prevalence of autism spectrum phenomenology in Cornelia de Lange and Cri du Chat syndromes.

Autism spectrum disorder characteristics have not been evaluated in Cornelia de Lange and Cri du Chat syndromes using robust assessments. The Autism Diagnostic Observation Schedule and Social Communication Questionnaire were administered to 34 participants with Cornelia de Lange syndrome and a comparison group of 23 participants with Cri du Chat syndrome (M ages 12.4 [SD = 3.8] and 10.3 years [SD = 3.6], respectively). Twenty-one participants with Cornelia de Lange syndrome (61.8%) scored above the autism cut-off on the Autism Diagnostic Observation Schedule compared to 9 with Cri du Chat syndrome (39.2%). Prevalence of autism spectrum disorder characteristics is heightened in Cornelia de Lange syndrome. The profile of characteristics is atypical to that of idiopathic autism.

Facial expression of affect in children with Cornelia de Lange syndrome.

BACKGROUND: Individuals with Cornelia de Lange syndrome (CdLS) have been reported to show comparatively high levels of flat and negative affect but there have been no empirical evaluations. In this study, we use an objective measure of facial expression to compare affect in CdLS with that seen in Cri du Chat syndrome (CDC) and a group of individuals with a mixed aetiology of intellectual disabilities (ID). METHOD: Observations of three groups of 14 children with CdLS, CDC and mixed aetiology of ID were undertaken when a one-to-one interaction was ongoing. RESULTS: There was no significant difference between the groups in the duration of positive, negative or flat affect. However, the CdLS group displayed a significantly lower ratio of positive to negative affect than children in the other groups. DISCUSSION: This difference partially confirms anecdotal observations and could be due to the expression of pain caused by health problems associated with CdLS or neurological expression of the CdLS gene in facial muscles related to expression of positive affect. However, further research is needed to directly test these possible associations.

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.

Craniofacial maturity and perceived personality in children with Down syndrome.

In this pair of studies, we examined whether the common perception of a positive Down syndrome personality is associated with a youthful craniofacial appearance, similar to Zebrowitz's (1997) "babyface." In Study 1, 43 observers rated photographs of age-matched children with Down syndrome, another mental retardation syndrome (5p- syndrome), and typically developing children. Those with Down syndrome were perceived as being more physically babyfaced and more likely to behave in an immature manner. We controlled for the effect of familiarity with Down syndrome in Study 2 by employing a within-etiology design in which 128 observers rated 12 pictures of 10-year-old children with Down syndrome. Results showed that more physically babyfaced children with Down syndrome are more subject to the overgeneralization.

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.

Problem behaviors associated with deletion Prader-Willi, Smith-Magenis, and cri du chat syndromes.

Problem behaviors of individuals who had one of three chromosome deletion disorders (5p- cri-du-chat, 15q- Prader-Willi, or 17p- Smith-Magenis) were investigated. The Aberrant Behavior Checklist was used. Results were contrasted with those of two groups of people with mental retardation who were described in other studies. The checklist rates many, but not all, potentially relevant behaviors. Eating abnormalities, known to be problematic in Prader-Willi syndrome, and sleep abnormalities, believed to be problematic in Smith-Magenis syndrome, were not included in the survey. All three disorders were associated with greater ratings of problem behaviors than the comparison groups on at least one subscale of the checklist. The results lend support to the partial specificity model of behaviors associated with genetically determined syndromes.