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PubMed This is a summary of 20 peer-reviewed journal articles Updated

Development, Behavior, and Long-Term Care

At a Glance

Children with CHARGE syndrome face long-term challenges like secondary developmental delays, dysautonomia, and a lack of natural puberty. A multidisciplinary team using hormone therapy, behavioral support, and sensory management helps them thrive.

As your child grows and transitions out of the high-intensity environment of the NICU, the focus shifts toward long-term development, hormonal health, and behavioral well-being. CHARGE syndrome is a lifelong journey, and while challenges exist, a proactive and coordinated approach can help your child reach their full potential [1][2].

Development and Cognitive Profiles

Development in children with CHARGE syndrome does not follow a “typical” timeline. Delays are common, but it is important to understand that these delays are often “secondary”—meaning they are caused by the combination of vision, hearing, and balance (vestibular) issues rather than a lack of cognitive potential [3][4].

  • Motor Milestones: Because of the missing semicircular canals, children with CHARGE often take longer to sit (often around 12–18 months) and walk (often around 3–4 years) [5][3].
  • Cognitive Variability: Cognitive abilities are highly variable [4]. Many children have strong “visual-spatial” skills but struggle with communication and “executive function” (the ability to plan and organize) [3].

Behavior and the Risk of Autism

Children with CHARGE have a significantly higher risk of being diagnosed with Autism Spectrum Disorder (ASD) compared to the general population [6][7]. However, diagnosing ASD in CHARGE is complex because many “autistic-like” behaviors—such as repetitive movements or social withdrawal—can actually be ways the child is trying to cope with sensory overload or “scrambled” input from their eyes and ears [6][8].

It is essential to have a behavioral evaluation performed by a specialist who understands dual-sensory impairment (deafblindness) [6]. Because children with CHARGE often have a high pain tolerance, it is also important to note that a sudden behavioral change or “meltdown” might actually be the only sign of a hidden medical issue, like an ear infection or dental pain [8].

Endocrine Health: Hypogonadotropic Hypogonadism

The CHD7 gene is critical for the development of the endocrine system. Most children with CHARGE have hypogonadotropic hypogonadism (HH) [9][10]. This means the “command center” in the brain does not send the right signals to the body to produce sex hormones.

  • Early Signs: In males, this often appears at birth as a microphallus (very small penis) or undescended testes [11][12].
  • Puberty: Without intervention, most children with CHARGE will not go through puberty naturally [13]. A pediatric endocrinologist will use hormone replacement therapy (testosterone or estrogen) to help the child develop secondary sex characteristics and protect their bone health [13][14]. Girls are equally affected by HH and will also typically require hormone therapy to initiate menstruation and puberty [13].

Dysautonomia: The “Internal” Thermostat

Many parents notice that their child has unusual responses to the world around them. This is often due to dysautonomia, a disruption of the autonomic nervous system [15]. This can manifest as:

  • Temperature Regulation: Getting very hot or very cold quickly for no clear reason [15].
  • High Pain Tolerance: A child may not cry or react to a significant injury because their brain processes pain signals differently [8]. Actionable Advice: Perform a daily visual “body check” of your child for unexplained bruising, swelling, or changes in how they walk after a fall.
  • Sleep Disturbances: Difficulty falling or staying asleep is a very common challenge in CHARGE [16]. You will likely need to work with a sleep specialist to discuss interventions, which may include establishing strict routines or using supplements like melatonin.

Your Long-Term Care Team Roster

Managing CHARGE requires a “medical home” where all your specialists communicate. Connecting with parent support groups, like the CHARGE Syndrome Foundation, is just as important as the medical care, helping to reduce the isolation that can follow a NICU stay.

Your child’s professional team will likely include:

Specialty Focus Area
Developmental Pediatrician Overall growth, milestones, and school advocacy.
Pediatric Endocrinologist Monitoring hormones, growth, and puberty [9].
Otolaryngologist (ENT) Hearing, airway, and sinus management [17].
Ophthalmologist Vision health and monitoring colobomas [18].
Audiologist Hearing aids, cochlear implants, and mapping [19].
Geneticist Continued monitoring of CHD7-related research.
Neuropsychologist Behavioral health, ASD screening, and cognitive testing [6].
Therapists PT, OT, Speech, and an Intervener for deafblindness [20].

Common questions in this guide

Why do children with CHARGE syndrome often have delayed motor milestones?
Children with CHARGE syndrome often lack semicircular canals in their inner ears, which heavily affects balance. When combined with vision and hearing challenges, this can cause significant delays in motor milestones like sitting and walking.
Is autism common in children with CHARGE syndrome?
Yes, there is a significantly higher risk of autism spectrum disorder. However, diagnosis is complex because many behaviors that look like autism are actually coping mechanisms for sensory overload or dual-sensory impairment.
What is hypogonadotropic hypogonadism in CHARGE syndrome?
It is a condition where the brain's command center fails to signal the body to produce sex hormones. Without hormone replacement therapy from a pediatric endocrinologist, most children with CHARGE syndrome will not go through natural puberty.
Why might my child with CHARGE syndrome not react to pain?
Many children with CHARGE syndrome experience dysautonomia, which disrupts how the brain processes pain signals and regulates the nervous system. Because of this high pain tolerance, parents should do daily body checks for hidden injuries.
What kind of doctors are needed for long-term CHARGE syndrome care?
Your child will need a multidisciplinary team that communicates regularly. This roster typically includes a developmental pediatrician, endocrinologist, ENT, ophthalmologist, audiologist, geneticist, and various developmental therapists.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.How can we distinguish between behaviors caused by sensory frustration and those that might indicate Autism Spectrum Disorder (ASD)?
  2. 2.Has my child been formally evaluated for hypogonadotropic hypogonadism, and what is the plan for monitoring or replacing hormones?
  3. 3.My child seems to have a very high pain tolerance (or trouble with sleep/temperature)—could this be dysautonomia, and how do we manage it?
  4. 4.What developmental milestones should we realistically expect this year, given my child's specific vision and hearing profile?
  5. 5.Can you help us coordinate a multidisciplinary meeting between our various specialists (the 'team roster')?

Questions For You

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

References

References (20)
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    [Expert consensus on auditory intervention and language rehabilitation of CHARGE syndrome].

    Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2025; (39(5)):396-406 doi:10.13201/j.issn.2096-7993.2025.05.002.

    PMID: 40263647
  2. 2

    Developing a CHARGE syndrome checklist: Health supervision across the lifespan (from head to toe).

    Trider CL, Arra-Robar A, van Ravenswaaij-Arts C, Blake K

    American journal of medical genetics. Part A 2017; (173(3)):684-691 doi:10.1002/ajmg.a.38085.

    PMID: 28160409
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    Phenotypic characteristics and variability in CHARGE syndrome: a PRISMA compliant systematic review and meta-analysis.

    Thomas AT, Waite J, Williams CA, et al.

    Journal of neurodevelopmental disorders 2022; (14(1)):49 doi:10.1186/s11689-022-09459-5.

    PMID: 36045324
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    Influence of hearing loss and cognitive abilities on language development in CHARGE Syndrome.

    Vesseur A, Langereis M, Free R, et al.

    American journal of medical genetics. Part A 2016; (170(8)):2022-30 doi:10.1002/ajmg.a.37692.

    PMID: 27145116
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    Gross motor skill performance in children with and without CHARGE syndrome: Research to practice.

    Haibach-Beach P, Perreault M, Foster E, Lieberman L

    Research in developmental disabilities 2019; (91()):103423 doi:10.1016/j.ridd.2019.05.002.

    PMID: 31238243
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    Should autism spectrum disorder be considered part of CHARGE syndrome? A cross-sectional study of 46 patients.

    Abadie V, Hamiaux P, Ragot S, et al.

    Orphanet journal of rare diseases 2020; (15(1)):136 doi:10.1186/s13023-020-01421-9.

    PMID: 32493418
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    Phenotypic variability in RERE-related disorders and the first report of an inherited variant.

    Niehaus AD, Kim J, Manning MA

    American journal of medical genetics. Part A 2022; (188(11)):3358-3363 doi:10.1002/ajmg.a.62952.

    PMID: 36053530
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    Behavior in CHARGE syndrome.

    Hartshorne TS, Stratton KK, Brown D, et al.

    American journal of medical genetics. Part C, Seminars in medical genetics 2017; (175(4)):431-438 doi:10.1002/ajmg.c.31588.

    PMID: 29082623
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    A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare CHD7 gene variant.

    Petrov S, Babadzhanova E, Orbetzova M, Ivanov H

    Clinical case reports 2023; (11(6)):e7492 doi:10.1002/ccr3.7492.

    PMID: 37305875
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    Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries.

    Reynaert N, de Zegher F, Francois I, et al.

    Hormone research in paediatrics 2016; (85(4)):288-90 doi:10.1159/000443308.

    PMID: 26741373
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    Evaluation of gonadotropin-replacement therapy in male patients with hypogonadotropic hypogonadism.

    Ortac M, Hidir M, Salabas E, et al.

    Asian journal of andrology 2019; (21(6)):623-627 doi:10.4103/aja.aja_6_19.

    PMID: 31062720
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    Corifollitropin Alfa Combined With Human Chorionic Gonadotropin in Adolescent Boys With Hypogonadotropic Hypogonadism.

    Shankar RR, Shah S, Joeng HK, et al.

    The Journal of clinical endocrinology and metabolism 2022; (107(7)):2036-2046 doi:10.1210/clinem/dgac145.

    PMID: 35275602
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    Effect of pubertal induction with combined gonadotropin therapy on testes development and spermatogenesis in males with gonadotropin deficiency: a cohort study.

    Castro S, Ng Yin K, d'Aniello F, et al.

    Human reproduction open 2025; (2025(2)):hoaf026 doi:10.1093/hropen/hoaf026.

    PMID: 40463510
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    Comparison of FSH Pre-treatment Versus Upfront hCG and FSH Regimens for Inducing Spermatogenesis in Congenital Hypogonadotropic Hypogonadism: A Pilot Study.

    Kaur J, Singhania N, Adhikari U, et al.

    Indian journal of endocrinology and metabolism 2025; (29(3)):332-336 doi:10.4103/ijem.ijem_307_24.

    PMID: 40688612
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    Prevalence of Dysautonomic Symptoms in CHARGE Syndrome: A Pilot Study of 25 Individuals With CHARGE Syndrome.

    Blake K, Morrison J, Burge L, et al.

    American journal of medical genetics. Part A 2026; (200(2)):419-425 doi:10.1002/ajmg.a.64273.

    PMID: 41081311
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    Quality of life in adolescents and adults with CHARGE syndrome.

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    American journal of medical genetics. Part A 2016; (170(8)):2012-21 doi:10.1002/ajmg.a.37769.

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    Systematic review of cochlear implantation in CHARGE syndrome.

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    PMID: 31282293
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    Prevalence of Semicircular Canal Hypoplasia in Patients With CHARGE Syndrome: 3C Syndrome.

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    Development of the International Classification of Functioning, Disability and Health Core Sets for children and youth with deafblindness: protocol for a multistudy collaboration across regions of WHO.

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This guide provides educational information on long-term development and care for children with CHARGE syndrome. It does not replace professional medical advice from your child's care team.

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