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PubMed This is a summary of 22 peer-reviewed journal articles Updated
Pediatrics

Building Your Care Team and Starting Early Interventions

At a Glance

Children with Monosomy 5p (Cri du Chat) benefit greatly from early, multidisciplinary intervention. A coordinated care team helps address physical development, swallowing safety, and functional communication using AAC tools to maximize the child's potential and reduce frustration.

Assembling a dedicated team of specialists is one of the most impactful ways you can support your child’s development. Because Monosomy 5p (Cri du Chat syndrome) affects many different systems in the body, your “care team” will likely include a wide range of professionals working together to create a personalized plan for your child [1][2].

Your Core Multidisciplinary Team

A multidisciplinary team is a group of healthcare providers from different specialties who coordinate care to address your child’s physical, developmental, and sensory needs [1].

  • Pediatrician: Acts as the “home base” for overall health and coordinates referrals to specialists.
  • Medical Geneticist: Helps explain your child’s specific deletion and provides genetic counseling to help you understand the chance of the condition occurring in future pregnancies [3][4].
  • Neurologist: Monitors brain development and manages issues like low muscle tone (hypotonia) or seizures [5].
  • Specialists for Screenings: This includes a Cardiologist (heart), Ophthalmologist (eyes), and Audiologist (hearing) to manage the specific comorbidities associated with the syndrome [6][7][1].

Prioritizing Early Interventions

Early intervention refers to therapies started as soon as possible to take advantage of the brain’s ability to grow and change.

  • Speech and Language Therapy: Children often understand more than they can say. Therapists may introduce Augmentative and Alternative Communication (AAC)—such as picture boards or electronic devices—to provide a functional way for your child to communicate without the frustration of verbal delays [8][9]. Many children successfully use basic sign language alongside AAC devices to bridge the gap in expressive speech, and parents can start learning this immediately [8].
  • Physical Therapy (PT): Focuses on gross motor skills like head control, sitting, and walking. Techniques such as neuro-developmental treatment can help improve movement in children with low muscle tone [10][11].
  • Occupational Therapy (OT): Works on fine motor skills (like grasping toys) and sensory processing, helping your child interact more comfortably with their environment [11].

Feeding and Swallowing Safety

Feeding is a primary concern for many families. Because structural differences in the throat can lead to silent aspiration (food or liquid entering the lungs without a cough), safety must be carefully managed [12][13].

  • Diagnostic Tools: A Videofluoroscopic Swallow Study (VFSS) or a Fiberoptic Endoscopic Evaluation of Swallowing (FEES) provides an objective look at how your child swallows [14][15].
  • Management Strategies: Feeding specialists may recommend dietary modifications, specific seating positions, or oral stimulation exercises to improve oral-motor coordination and reduce the risk of respiratory infections [14][16].

Behavioral Support and “Challenging” Behaviors

Some children with Monosomy 5p may display behaviors similar to those on the autism spectrum, such as repetitive movements (hand flapping) or obsessive attachments to objects [17]. However, a formal dual diagnosis of autism is not always applicable; these behaviors are frequently driven by sensory processing challenges or frustration from severe communication barriers [18].

  • Positive Behavior Support (PBS): This is an evidence-based approach that combines Applied Behavior Analysis (ABA) with other strategies to address challenging behaviors and improve quality of life [19][20].
  • Stress Management: Behavioral challenges can be a significant source of stress for caregivers. Working with a specialist to create a functional communication plan often reduces these behaviors by giving the child a better way to express their needs [21][22].

Common questions in this guide

What specialists should be on my child's Monosomy 5p care team?
A core multidisciplinary team typically includes a pediatrician, medical geneticist, and neurologist. Your child will also likely need ongoing screenings from specialists like a cardiologist, ophthalmologist, and audiologist.
Why is early intervention important for Cri du Chat syndrome?
Early interventions, like physical and speech therapy, capitalize on the brain's natural ability to grow and adapt. Starting therapies early helps address low muscle tone and provides tools to overcome severe communication barriers before frustration sets in.
How can we manage feeding issues and silent aspiration safely?
Diagnostic tools like a Videofluoroscopic Swallow Study (VFSS) can accurately evaluate your child's swallowing safety. Feeding specialists use these results to recommend specific seating positions, dietary changes, or oral exercises to prevent respiratory infections.
What are the best ways to help a child with Monosomy 5p communicate?
Because expressive speech is often delayed, therapists frequently introduce Augmentative and Alternative Communication (AAC) devices or basic sign language. This provides a functional, immediate way for your child to communicate their needs without requiring verbal speech.
How are challenging behaviors managed in children with Monosomy 5p?
Challenging behaviors are often driven by communication barriers or sensory processing issues. Positive Behavior Support (PBS), which combines Applied Behavior Analysis with other therapeutic strategies, can effectively address these behaviors and improve your child's quality of life.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Which pediatric feeding specialist or speech-language pathologist in our area has experience with the specific laryngeal structures of children with Cri du Chat?
  2. 2.Can we schedule a formal Augmentative and Alternative Communication (AAC) evaluation to explore non-verbal communication options early on?
  3. 3.What specific gross motor milestones should our physical therapist focus on this year, given my child's current muscle tone?
  4. 4.Are there local Positive Behavior Support (PBS) specialists who can help us create a plan for repetitive behaviors or self-injury?
  5. 5.How often should our child see the pediatric cardiologist and ophthalmologist for follow-up monitoring?

Questions For You

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References

References (22)
  1. 1

    Cri-Du-Chat Syndrome - A Rare Case Report.

    Dhanasekaran B, Srinivasan R, Kanagamuthu P, et al.

    Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India 2023; (75(4)):3993-3998 doi:10.1007/s12070-023-04039-y.

    PMID: 37974816
  2. 2

    [Genetic analysis of a case with atypical neonatal Cri-du-chat syndrome].

    He W, Chen H, Mu H, Li J

    Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2018; (35(1)):104-106 doi:10.3760/cma.j.issn.1003-9406.2018.01.024.

    PMID: 29419873
  3. 3

    Cri-du-Chat Syndrome: Revealing a Familial Atypical Deletion in 5p.

    Almeida VT, Chehimi SN, Gasparini Y, et al.

    Molecular syndromology 2023; (13(6)):527-536 doi:10.1159/000524371.

    PMID: 36660031
  4. 4

    Clinical features and genetic analysis of a family with t(5;9) (p15;p24) balanced translocation leading to Cri-du-chat syndrome in offspring.

    Zhao J, Chen P, Ren Y, et al.

    Frontiers in genetics 2025; (16()):1550937 doi:10.3389/fgene.2025.1550937.

    PMID: 40406061
  5. 5

    Novel rearrangements between different chromosomes with direct impact on the diagnosis of 5p- syndrome.

    Chehimi SN, Almeida VT, Nascimento AM, et al.

    Clinics (Sao Paulo, Brazil) 2022; (77()):100045 doi:10.1016/j.clinsp.2022.100045.

    PMID: 35640457
  6. 6

    Case Report: An association of left ventricular outflow tract obstruction with 5p deletions.

    Mascho K, Yatsenko SA, Lo CW, et al.

    Frontiers in genetics 2024; (15()):1451746 doi:10.3389/fgene.2024.1451746.

    PMID: 39492880
  7. 7

    Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome.

    Chhaya N, Chan T

    Rhode Island medical journal (2013) 2021; (104(1)):37-39.

    PMID: 33517598
  8. 8

    Identifying and Describing Best Clinical Practices for Children and Adolescents With Complex Communication Needs: A Scoping Review of Healthcare-Based Interventions.

    Resina P, Mezzatesta M, Elias N, et al.

    Journal of intellectual disability research : JIDR 2025; (69(10)):1081-1096 doi:10.1111/jir.70022.

    PMID: 40745993
  9. 9

    Augmentative and Alternative Communication for Children with Intellectual and Developmental Disability: A Mega-Review of the Literature.

    Crowe B, Machalicek W, Wei Q, et al.

    Journal of developmental and physical disabilities 2022; (34(1)):1-42 doi:10.1007/s10882-021-09790-0.

    PMID: 33814873
  10. 10

    Impact of a 12-month multifaceted neurological physiotherapy intervention on gross motor function in women with Rett syndrome.

    Kapel A, Kovacic T, Kos N, Velnar T

    Journal of integrative neuroscience 2022; (21(2)):59 doi:10.31083/j.jin2102059.

    PMID: 35364647
  11. 11

    Multiple Approaches of Neuro-Physiotherapy Used for Improving Balance, Normalizing Tone, and Gait Training in a Child With Ataxic Cerebral Palsy: A Case Report.

    Upganlawar DS, Samal S, Koul P, Kapre JP

    Cureus 2023; (15(12)):e50264 doi:10.7759/cureus.50264.

    PMID: 38196428
  12. 12

    [Brain MRI Findings of the Cri-Du-Chat Syndrome: A Case Report and Summary].

    Choi JS, Yoo EA, Choi JO, Kim SJ

    Taehan Yongsang Uihakhoe chi 2020; (81(4)):979-984 doi:10.3348/jksr.2020.81.4.979.

    PMID: 36238176
  13. 13

    Laryngeal Findings in a 20-Month-Old With Cri du Chat Syndrome.

    Braunstein D, Jones H, Heffernan C

    The Laryngoscope 2025; (135(5)):1774-1776 doi:10.1002/lary.31941.

    PMID: 39665168
  14. 14

    Dysphagia in Older Adults.

    Thiyagalingam S, Kulinski AE, Thorsteinsdottir B, et al.

    Mayo Clinic proceedings 2021; (96(2)):488-497 doi:10.1016/j.mayocp.2020.08.001.

    PMID: 33549267
  15. 15

    Clinical outcomes before and after videofluoroscopic swallow study in children 24 months of age or younger.

    Barth FL, Levy DS, Gasparin M, et al.

    Jornal brasileiro de pneumologia : publicacao oficial da Sociedade Brasileira de Pneumologia e Tisilogia 2024; (50(1)):e20230290 doi:10.36416/1806-3756/e20230290.

    PMID: 38536983
  16. 16

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

    Kim MK, Kim DJ

    Occupational therapy international 2018; (2018()):6573508 doi:10.1155/2018/6573508.

    PMID: 29853814
  17. 17

    Deep Phenotyping and Genetic Characterization of a Cohort of 70 Individuals With 5p Minus Syndrome.

    Nevado J, Bel-Fenellós C, Sandoval-Talamantes AK, et al.

    Frontiers in genetics 2021; (12()):645595 doi:10.3389/fgene.2021.645595.

    PMID: 34394178
  18. 18

    Generation of induced pluripotent stem cells (iPSCs) from patient with Cri du Chat Syndrome.

    Piovani G, Lanzi G, Ferraro RM, et al.

    Stem cell research 2019; (35()):101393 doi:10.1016/j.scr.2019.101393.

    PMID: 30711802
  19. 19

    Positive Behavior Support for Individuals with Behavior Challenges.

    Hieneman M

    Behavior analysis in practice 2015; (8(1)):101-108 doi:10.1007/s40617-015-0051-6.

    PMID: 27703893
  20. 20

    Do we need to go beyond a purely behavioral approach? A response to Woodcock and Blackwell.

    Tincani M, Travers J, Dowdy A

    Current opinion in psychiatry 2020; (33(5)):509-511 doi:10.1097/YCO.0000000000000633.

    PMID: 32639363
  21. 21

    A Review of Management Strategies for Aggression and Self-Injury in Youth With Autism Spectrum Disorder.

    Taniguchi E, Kim SJ

    Pediatric annals 2026; (55(2)):e71-e75 doi:10.3928/19382359-20251112-02.

    PMID: 41633550
  22. 22

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

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This page provides educational information on building a care team for Monosomy 5p syndrome. Always consult with your child's pediatrician and specialists to create a personalized, safe early intervention plan.

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