Pediatrics

Multisystem Management & Building Your Child's Care Team

At a Glance

Managing ADNP syndrome requires a multidisciplinary care team, including a geneticist, neurologist, cardiologist, and developmental therapists. Following a diagnosis, baseline screenings like echocardiograms and EEGs are crucial for identifying and treating underlying medical issues early.

Because ADNP syndrome affects many different parts of the body, managing it requires a “multidisciplinary” approach—a team of specialists working together. While there are currently no formal, government-issued consensus guidelines for this ultra-rare disease, the medical literature provides a clear roadmap for the screenings and specialists your child needs ^[1]^[2].

Your Child’s Specialist Roster

Your medical team will likely be anchored by your pediatrician and a clinical geneticist, but because ADNP is a multisystem disorder, you may need to add the following experts ^[3]^[4]:

Cardiology: To screen for congenital heart defects (CHDs). Many children with ADNP are born with structural heart issues such as atrial septal defects (ASD) or ventricular septal defects (VSD) (holes in the heart) ^[5]^[6].
Ophthalmology: To monitor for vision issues. Strabismus (misaligned eyes) and ptosis (drooping eyelids) are very common ^[1]^[7].
Neurology: To manage hypotonia (low muscle tone), monitor brain development, and evaluate for seizures or epilepsy, which occur in a subset of children ^[4]^[8]. Some children have ventriculomegaly (enlarged fluid-filled spaces in the brain) visible on imaging; this is typically monitored by your team rather than requiring immediate surgical intervention ^[9]^[4].
Gastroenterology (GI): To address feeding difficulties or chronic constipation, which are frequent challenges for ADNP families ^[10]^[8].
Dentistry: To monitor the health of early-erupting teeth and check for enamel abnormalities ^[11]^[12].
Developmental Therapists: This includes Physical Therapy (PT), Occupational Therapy (OT), and Speech-Language Pathology (SLP) to support motor and communication milestones ^[4]^[13].

Baseline Screening Checklist

Upon receiving a diagnosis, the following screenings are considered “best practice” to ensure any underlying medical issues are identified early ^[1]^[3]:

Screening Type	What It Checks For
Echocardiogram	Structural heart defects (ASD, VSD, PDA) ^[5]
Comprehensive Eye Exam	Strabismus, ptosis, and general vision health ^[1]
Early Dental Exam	Enamel health and management of premature teething ^[11]
Baseline EEG	To check for underlying seizure activity, even if obvious convulsions are not seen ^[4]
Hearing Screen	To ensure delays aren’t caused by undetected hearing loss ^[3]
Therapy Assessment	Baseline for motor, sensory, and speech development ^[4]
Growth Monitoring	Tracking height and weight, as some children may have endocrine-related issues ^[8]

Advocating for Comprehensive Care

In the world of ultra-rare diseases, you will often find yourself in the position of “expert” or “educator” for your child’s local doctors. Advocacy is your most powerful tool.

The “Learning” Specialist: When vetting a new doctor, look for one who is honest about what they don’t know but expresses a clear willingness to read the latest research on ADNP syndrome.
The Power of Connection: Encourage your specialists to connect with the ADNP Kids Research Foundation or established centers of excellence.
Documentation is Key: Keep a dedicated “Care Binder” with copies of all genetic reports, imaging (like MRIs or Echocardiograms), and therapy evaluations. Bringing this to every appointment ensures that no part of your child’s complex care is overlooked ^[2]^[14].

Common questions in this guide

What specialists should be on my child's ADNP syndrome care team?

Your child's care team should be anchored by a pediatrician and clinical geneticist, alongside specialists like a cardiologist, ophthalmologist, neurologist, gastroenterologist, and developmental therapists. This approach ensures all potential multisystem impacts are monitored.

What baseline medical screenings are recommended after an ADNP diagnosis?

Best practices for new diagnoses include an echocardiogram for heart defects, a comprehensive eye exam, a baseline EEG to check for seizures, hearing and dental screens, and developmental therapy assessments. These tests help catch and treat underlying issues as early as possible.

Why does a child with ADNP syndrome need to see a cardiologist?

Many children with ADNP syndrome are born with structural congenital heart defects, such as atrial septal defects or ventricular septal defects. A baseline echocardiogram is highly recommended to identify and monitor these conditions.

How can I best advocate for my child's complex medical care?

Keep a dedicated care binder containing all genetic reports, imaging results, and therapy evaluations to bring to every appointment. It is also helpful to seek out doctors who are willing to learn and read the latest research about this ultra-rare condition.

Curated prompts to bring to your next appointment.

1.Are you familiar with ADNP syndrome, or are you willing to review the recent literature on multisystem involvement in Helsmoortel-Van der Aa syndrome?
2.Can we schedule a baseline echocardiogram, an ophthalmology exam, and an EEG to rule out the most common structural or neurological issues?
3.What specific developmental therapies do you recommend for children with severe hypotonia and speech apraxia?
4.How will we coordinate communication between all the specialists we are adding to our team?
5.Is there a clinical nurse specialist or a care coordinator at this hospital who can help us manage these multiple referrals?

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

References (14)

1
Helsmoortel-van der Aa syndrome in a Chinese pediatric patient due to ADNP nonsense mutation: A case report.
Chen LJ, You ZM, Chen WH, et al.
Frontiers in pediatrics 2023; (11()):1122513 doi:10.3389/fped.2023.1122513.
PMID: 37063667
2
All in the Family: Living With ADNP Syndrome.
Fletcher PC, Pollock S, Luymes N, Bryden PJ
Clinical nurse specialist CNS 2022; (36(4)):214-222 doi:10.1097/NUR.0000000000000680.
PMID: 35714324
3
Clinical impact and in vitro characterization of ADNP variants in pediatric patients.
Ge C, Tian Y, Hu C, et al.
Molecular autism 2024; (15(1)):5 doi:10.1186/s13229-024-00584-7.
PMID: 38254177
4
Abnormal fetal ultrasound leading to the diagnosis of ADNP syndrome.
Rosenblum J, Van der Veeken L, Aertsen M, et al.
European journal of medical genetics 2023; (66(11)):104855 doi:10.1016/j.ejmg.2023.104855.
PMID: 37758165
5
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures.
Stern D, Cho MT, Chikarmane R, et al.
Clinical genetics 2017; (92(2)):221-223 doi:10.1111/cge.12956.
PMID: 28111752
6
Case Report: Non-ossifying fibromas with pathologic fractures in a patient with NONO-associated X-linked syndromic intellectual developmental disorder.
Writzl K, Mavčič B, Maver A, et al.
Frontiers in genetics 2023; (14()):1167054 doi:10.3389/fgene.2023.1167054.
PMID: 37533431
7
Further evidence that a blepharophimosis syndrome phenotype is associated with a specific class of mutation in the ADNP gene.
Takenouchi T, Miwa T, Sakamoto Y, et al.
American journal of medical genetics. Part A 2017; (173(6)):1631-1634 doi:10.1002/ajmg.a.38126.
PMID: 28407407
8
The De Novo p.(Ser802Phe) Variant Causes Helsmoortel-Van der Aa/ ADNP Syndrome in a 24-Year-Old Woman and Is Predicted to Perturb ADNP-DNA Affinity.
Benvenuto M, Giacomo MCD, Piepoli A, et al.
American journal of medical genetics. Part A 2026; (200(2)):468-474 doi:10.1002/ajmg.a.64264.
PMID: 40977432
9
Prenatal diagnosis of complex phenotype in a 13-week-old fetus with an interstitial multigene deletion 20q13.13.-q13.2 by chromosomal microarray.
Stipoljev F, Miric-Tesanic D, Hafner T, et al.
European journal of medical genetics 2017; (60(11)):589-594 doi:10.1016/j.ejmg.2017.08.010.
PMID: 28807863
10
Early behavioral and developmental interventions in ADNP-syndrome: A case report of SWI/SNF-related neurodevelopmental syndrome.
Shillington A, Pedapati E, Hopkin R, Suhrie K
Molecular genetics & genomic medicine 2020; (8(6)):e1230 doi:10.1002/mgg3.1230.
PMID: 32275126
11
Premature primary tooth eruption in cognitive/motor-delayed ADNP-mutated children.
Gozes I, Van Dijck A, Hacohen-Kleiman G, et al.
Translational psychiatry 2017; (7(7)):e1166 doi:10.1038/tp.2017.128.
PMID: 28675391
12
Oro-Dental Manifestations in a Pediatric Patient Affected by Helsmoortel-Van der Aa Syndrome.
Petruzzi M, Stella A, Capra V, et al.
International journal of environmental research and public health 2021; (18(17)) doi:10.3390/ijerph18178957.
PMID: 34501546
13
Description of neurodevelopmental phenotypes associated with 10 genetic neurodevelopmental disorders: A scoping review.
Hanly C, Shah H, Au PYB, Murias K
Clinical genetics 2021; (99(3)):335-346 doi:10.1111/cge.13882.
PMID: 33179249
14
ADNP Syndrome: A Qualitative Assessment of Symptoms, Therapies, and Challenges.
Fastman J, Kolevzon A
Children (Basel, Switzerland) 2023; (10(3)) doi:10.3390/children10030593.
PMID: 36980151

This page provides educational information about managing ADNP syndrome and building a multidisciplinary care team. It does not replace professional medical advice, and you should always consult your child's specialists for individualized care plans.

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