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PubMed This is a summary of 19 peer-reviewed journal articles Updated
Pediatrics · Joubert syndrome

When Do Children With Joubert Syndrome Walk and Talk?

At a Glance

Children with Joubert syndrome usually experience developmental delays due to low muscle tone and ataxia. However, most learn to walk between ages 2 and 5 and develop effective communication skills. Early interventions like physical, occupational, and speech therapy are crucial for progress.

In this answer

3 sections

01

Understanding Motor Milestones and Walking

02

Communication and Talking

03

The Role of Early Intervention

Almost all children with Joubert syndrome (JS) experience global developmental delays, particularly when it comes to learning to walk and talk. Because JS affects the brain’s ability to coordinate movement and muscle control, reaching these milestones takes more time and practice than it does for neurotypical children [1]. However, there is reason for hope: many children with Joubert syndrome do eventually learn to walk, often between the ages of 2 to 5, though some may take longer depending on their specific physical challenges. Similarly, many children with JS learn to communicate effectively, and you may find that their ability to understand and connect with you outpaces their physical motor skills.

Understanding Motor Milestones and Walking

One of the core features of Joubert syndrome is hypotonia (low muscle tone), which is often present from birth [2][3]. Hypotonia can make a baby feel “floppy” and means they have to work much harder to build the strength needed to hold up their head, sit up, and eventually walk [4]. As children with JS grow, they may also experience ataxia, which is difficulty with balance and coordination [1].

Because of hypotonia and ataxia, independent sitting and walking are consistently delayed [5][6]. The exact timeline varies greatly from child to child. This variability is often related to the severity of the brain structure differences—specifically, the “molar tooth sign” seen on an MRI, which indicates how underdeveloped the cerebellar vermis is [7][8]. While studies show a wide range in outcomes, the focus should remain on consistent progress rather than a strict timeline [9][10].

Communication and Talking

Children with Joubert syndrome also experience delays in both receptive language (understanding what is said) and expressive language (speaking words) [11][12]. Because speaking requires incredibly precise muscle coordination in the mouth and throat, children with low muscle tone may find forming words physically difficult. This can sometimes present as Childhood Apraxia of Speech (CAS), where the brain struggles to direct the mouth to make the correct movements for speaking.

However, a child’s ability to communicate often extends far beyond their spoken words. Many children show strong social engagement and understanding before they can physically speak. To support this, speech-language pathologists often introduce Augmentative and Alternative Communication (AAC) [13][14]. AAC includes tools like sign language, picture boards, or speech-generating devices that give your child a voice while their physical speech is still developing.

The Role of Early Intervention

While you are managing other aspects of Joubert syndrome—such as monitoring kidney, eye, and liver health, or navigating the breathing abnormalities common in infancy—addressing developmental milestones requires its own focus [15][16]. The most effective way to help your child reach their full potential is through early, consistent, and multidisciplinary intervention [13][17]. Because JS affects cognitive and physical abilities differently in each child, a customized therapy plan is essential [9][18].

Your child’s care team will likely include:

  • Physical Therapy (PT): Focuses on building core strength, improving balance, and working toward gross motor milestones like crawling and walking [19][13].
  • Occupational Therapy (OT): Helps develop fine motor skills, hand-eye coordination, and skills needed for daily living and play [17].
  • Speech Therapy: Works on both the physical mechanics of speaking and broader communication strategies, including the use of AAC devices [14][19].

While the journey requires patience, therapies play a critical role in enhancing your child’s functional independence and overall well-being [13][17].

Common questions in this guide

When do children with Joubert syndrome usually learn to walk?
Most children with Joubert syndrome learn to walk between the ages of 2 and 5. However, this timeline varies widely depending on the individual child's specific physical challenges, such as the severity of their low muscle tone and balance issues.
Why is speech delayed in Joubert syndrome?
Speech delays are common because low muscle tone makes it difficult to coordinate the precise mouth and throat muscles needed for speaking. Some children may also have Childhood Apraxia of Speech, meaning the brain struggles to direct the mouth to make correct movements.
What is the molar tooth sign and how does it affect development?
The molar tooth sign is a distinct brain structure appearance seen on an MRI, indicating an underdeveloped cerebellar vermis. The severity of this structural difference often correlates with how much a child's balance and developmental milestones will be delayed.
How can I help my child communicate before they can speak?
Speech-language pathologists often introduce Augmentative and Alternative Communication (AAC) tools like sign language, picture boards, or speech-generating devices. These tools allow your child to express themselves effectively while their physical speech abilities continue to develop.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is the specific severity of the 'molar tooth sign' on my child's brain MRI, and how might that influence their individual developmental timeline?
  2. 2.Are there local early intervention programs or therapists (PT, OT, Speech) who have specific experience treating hypotonia and ataxia?
  3. 3.What are the options for introducing Augmentative and Alternative Communication (AAC) early, and how do we request a formal evaluation?
  4. 4.Could my child's speech difficulties be related to Childhood Apraxia of Speech (CAS), and how would that diagnosis change our therapy approach?
  5. 5.How should we balance the time and energy spent on physical and speech therapies with the necessary medical monitoring for our child's kidney, liver, and eye health?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

Related questions

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References

References (19)
  1. 1

    Whole exome sequencing reveals novel CEP104 mutations in a Chinese patient with Joubert syndrome.

    Luo M, Cao L, Cao Z, et al.

    Molecular genetics & genomic medicine 2019; (7(12)):e1004 doi:10.1002/mgg3.1004.

    PMID: 31625690
  2. 2

    Whole exome sequencing identified a novel missense alteration in CC2D2A causing Joubert syndrome 9 in a Pakhtun family.

    Khan MI, Latif M, Saif M, et al.

    The journal of gene medicine 2021; (23(1)):e3279 doi:10.1002/jgm.3279.

    PMID: 32989887
  3. 3

    [Clinical and genetic analysis for a Joubert syndrome family with CC2D2A gene mutations].

    Su Y, Xie J, Yu S, et al.

    Zhonghua er ke za zhi = Chinese journal of pediatrics 2015; (53(6)):431-5.

    PMID: 26310553
  4. 4

    Loss of the neurodevelopmental Joubert syndrome causing protein, Ahi1, causes motor and muscle development delays independent of central nervous system involvement.

    Bourgeois JR, Ferland RJ

    Developmental biology 2019; (448(1)):36-47 doi:10.1016/j.ydbio.2019.01.014.

    PMID: 30695685
  5. 5

    An infant with Joubert syndrome: A case report.

    Tabassum S, Naeem A, Ahmad RU, et al.

    Radiology case reports 2023; (18(2)):661-664 doi:10.1016/j.radcr.2022.11.024.

    PMID: 36484066
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    Clinical and genetic characteristics of 36 children with Joubert syndrome.

    Dong Y, Zhang K, Yao H, et al.

    Frontiers in pediatrics 2023; (11()):1102639 doi:10.3389/fped.2023.1102639.

    PMID: 37547106
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    Joubert syndrome: neuroimaging findings in 110 patients in correlation with cognitive function and genetic cause.

    Poretti A, Snow J, Summers AC, et al.

    Journal of medical genetics 2017; (54(8)):521-529 doi:10.1136/jmedgenet-2016-104425.

    PMID: 28087721
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    Joubert syndrome a rare entity and role of radiology: A case report.

    Ullah I, Khan KS, Afridi RU, et al.

    Annals of medicine and surgery (2012) 2022; (79()):104113 doi:10.1016/j.amsu.2022.104113.

    PMID: 35860112
  9. 9

    Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.

    Zhang X, Shen Y, Li P, et al.

    Molecular genetics & genomic medicine 2021; (9(6)):e1682 doi:10.1002/mgg3.1682.

    PMID: 33822487
  10. 10

    Multidimensional Functional Phenotyping in Children with Joubert Syndrome: A Pilot Case Series.

    Mański Ł, Moluszys A, Góra A, et al.

    Brain sciences 2026; (16(3)) doi:10.3390/brainsci16030305.

    PMID: 41892648
  11. 11

    Language, behavior and neurodevelopment in Joubert syndrome: a case report.

    Lamônica DA, Ribeiro CD, Richieri-Costa A, Giacheti CM

    CoDAS 2016; (28(6)):823-827 doi:10.1590/2317-1782/20162015184.

    PMID: 28001274
  12. 12

    Neuroimaging Characteristics as Diagnostic Tools in Joubert Syndrome and Related Disorders: A Case Report and Literature Review.

    Alhashimi I, Zoghoul S, Khalil SK, et al.

    Cureus 2024; (16(9)):e69872 doi:10.7759/cureus.69872.

    PMID: 39435230
  13. 13

    Joubert Syndrome in Children-A Comprehensive Analysis of Quality of Life, Functional Independence and Family Impact.

    Elmaoğlu E, Coşkun AB, Usgu S, et al.

    American journal of medical genetics. Part A 2025; (197(12)):e64213 doi:10.1002/ajmg.a.64213.

    PMID: 40750754
  14. 14

    Effects of a Conversation-Based Intervention on the Linguistic Skills of Children With Motor Speech Disorders Who Use Augmentative and Alternative Communication.

    Soto G, Clarke MT

    Journal of speech, language, and hearing research : JSLHR 2017; (60(7)):1980-1998 doi:10.1044/2016_JSLHR-L-15-0246.

    PMID: 28672283
  15. 15

    Prospective Evaluation of Kidney Disease in Joubert Syndrome.

    Fleming LR, Doherty DA, Parisi MA, et al.

    Clinical journal of the American Society of Nephrology : CJASN 2017; (12(12)):1962-1973 doi:10.2215/CJN.05660517.

    PMID: 29146704
  16. 16

    Joubert syndrome diagnosed renally late.

    Collard E, Byrne C, Georgiou M, et al.

    Clinical kidney journal 2021; (14(3)):1017-1019 doi:10.1093/ckj/sfaa007.

    PMID: 33777383
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    Joubert syndrome: a case report of neonatal presentation and early diagnosis.

    González-Gordillo CI, Orozco-Soto LE, Osegueda-Mayen JR, et al.

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    PMID: 37490694
  18. 18

    Phenotypic variability in Joubert syndrome is partially explained by ciliary pathophysiology.

    Owens JW, Hopkin RJ, Martin LJ, et al.

    Annals of human genetics 2024; (88(1)):86-100 doi:10.1111/ahg.12537.

    PMID: 37921557
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    Physiotherapy and Rehabilitation in a Child with Joubert Syndrome.

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This page provides general information about developmental milestones in Joubert syndrome for educational purposes. Always consult your child's pediatrician and therapy team for a customized intervention plan.

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