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This case highlights a novel association between cri du chat syndrome (CdCS) and diffuse alveolar hemorrhage (DAH), a life-threatening pulmonary complication not previously reported in the literature. It emphasizes the importance of considering DAH in pediatric patients with genetic disorders presenting with recurrent hemoptysis and anemia. Early recognition, comprehensive evaluation, and multidisciplinary management are crucial for improving outcomes. This report expands the clinical spectrum of CdCS and urges heightened awareness among pediatricians and pulmonologists.

Developmental central hypotonia is a broad clinical term describing low muscle tone secondary to non-degenerative brain impairment. Because there is no widely implemented, standardized way to quantify hypotonia in young children, and low tone is still judged largely through subjective clinical examination, early motor phenotyping remains challenging. We conducted a scoping review to map how Prechtl's General Movements Assessment (GMA) and the Motor Optimality Score-Revised (MOS-R) have been used in infants with developmental central hypotonia aged <5 months corrected age. PubMed, Scopus, ProQuest, Web of Science and the Cochrane Library were searched from inception to November 2025. Included studies assessed preterm or term infants with developmental central hypotonia using GMA and/or MOS-R. Fourteen studies met inclusion criteria, covering 12 diagnoses and etiologies (including Cornelia de Lange syndrome, hypotonic cerebral palsy, Cri du chat syndrome, Down syndrome, Prader-Willi syndrome, Smith-Magenis syndrome, and West syndrome). Across conditions, spontaneous motor behavior showed a consistent pattern: reduced variability and complexity, a below-age-expected repertoire, and atypical posture, with predominantly slow or monotonous movement character. Atypical fidgety patterns were frequent, although fidgety movements could still be present in infants diagnosed with Down syndrome or Prader-Willi syndrome. Evidence was limited and heterogeneous, with most studies small and descriptive. GMA and MOS-R are feasible, reliable tools to assess early motor phenotypes in developmental central hypotonia and may strengthen detection and surveillance pathways. Prospective longitudinal studies should standardize MOS-R subdomain reporting and evaluate clinical utility by examining associations with later functional and hypotonia trajectories, and responsiveness to early intervention.

STUDY OBJECTIVES: Data on sleep disorders in Cri du Chat (CdC) syndrome are limited; this study examines their prevalence, clinical features, and age-related patterns in pediatric patients. METHODS: Caregivers of children with CdC syndrome (<18 years), recruited through the Italian CdC Children's Association, completed a structured survey. The questionnaire included four validated sleep assessment tools: the Child's Sleep Habits Questionnaire (CSHQ), the Pediatric Insomnia Severity Index (PISI), the Epworth Sleepiness Scale for Children and Adolescents (ESS-CHAD), and the Sleep Questionnaire for Children with Severe Psychomotor Impairment (SNAKE). Analyses were conducted on the overall sample and stratified by age groups (0-6, 7-12, and 13-17 years). RESULTS: Fifty-one participants were included (median age 10 years; IQR 5-14 years). Pathological CSHQ scores were observed in all participants. Younger children exhibited significantly greater insomnia severity on the PISI and higher SNAKE scores for sleep maintenance disorders and daytime sleepiness (p < 0.05). Daytime somnolence assessed by ESS-CHAD was generally mild and showed a decreasing trend with increasing age. Severe intellectual disability was significantly associated with sleep-related arousal and breathing disorders (p = 0.016) and with daytime sleepiness (p = 0.032). Overall, 51% of patients had received pharmacological treatment at least once, with melatonin being the most frequently used medication and reported as effective in 68% of treated cases. CONCLUSIONS: Sleep disturbances are highly prevalent across all pediatric age groups in CdC syndrome and present distinct age-related patterns. Routine screening using standardized questionnaires may facilitate early identification and tailored interventions. CLINICAL TRIAL: The study was approved by the Ethical Committee (Comitato Etico Territoriale Lazio Area 1; study number 7980, Prot. 0481/2025). STATEMENT OF SIGNIFICANCE: Sleep disturbances represent an underrecognized but clinically relevant aspect of Cri du Chat syndrome. This study provides one of the first systematic characterizations of sleep problems across pediatric age groups in this rare neurodevelopmental condition, highlighting age-related patterns and associations with cognitive severity. By integrating multiple caregiver-reported sleep measures, the findings underscore the pervasive impact of sleep disturbances on daily functioning and well-being. The results emphasize the need for routine sleep assessment in clinical practice and support the development of tailored, age-specific management strategies. Future research should focus on longitudinal trajectories, objective sleep measures, and optimized therapeutic approaches to improve outcomes in this population.