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ADNP-Related Intellectual Disability and Autism Spectrum Disorder

Synonyms: Helsmoortel-Van der Aa Syndrome, ADNP-Related ID/ASD

, MD, , MSc, , PhD, and , PhD.

Author Information

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Estimated reading time: 12 minutes


Clinical characteristics.

ADNP-related intellectual disability and autism spectrum disorders (ADNP-related ID/ASD) are characterized by mild to severe intellectual disability and autism spectrum disorder (ASD). Of the 24 individuals reported to date, 23 were ascertained in cohorts with autism spectrum disorder (ASD) / intellectual disability (ID); one was identified in a clinical setting. The clinical information available on 12 of the 24 revealed: delayed developmental milestones (walking independently between 19 months and 4.5 years) and speech ranging from no words to sentences. ASD was characterized by stereotypic behavior and impaired social interaction. Other common findings include behavioral problems, sleep disturbance, hypotonia, seizures, feeding difficulties, visual problems (hypermetropia, strabismus, cortical visual impairment), and cardiac defects.


The diagnosis of ADNP-related ID/ASD is established by identification of a heterozygous ADNP pathogenic variant on molecular genetic testing.


Treatment of manifestations: Treatment is symptomatic and can include: speech, occupational, and physical therapy; specialized learning programs depending on individual needs; treatment of neuropsychiatric features (e.g., sleep disorders, behavioral problems, and/or seizures); nutritional support as needed; routine treatment of ophthalmologic and cardiac findings.

Genetic counseling.

ADNP-related ID/ASD is expressed in an autosomal dominant manner. Given that all affected individuals with ADNP-related syndromic autism reported to date have the disorder as a result of a de novo ADNP pathogenic variant, the risk to other family members is presumed to be low. Prenatal testing and preimplantation genetic diagnosis are possible options.


Formal diagnostic criteria have not been established.

Suggestive Findings

ADNP-related intellectual disability and autism spectrum disorders (ADNP-related ID/ASD) should be considered in individuals with the following clinical and MRI findings.

Clinical findings

  • Mild-to-severe intellectual disability, including global developmental delay (motor – speech)
  • Autism spectrum disorder (which can include behavioral problems and sleep disturbance)
  • Characteristic facial appearance including prominent forehead, high anterior hairline, ptosis, up- or downslanted palpebral fissures, wide nasal bridge, and a thin vermilion of the upper lip. Many affected individuals have ear abnormalities, including small low-set ears, and protruding cup-shaped ears. See Figure 1.
Figure 1. . Photographs of affected males (ages: A.

Figure 1.

Photographs of affected males (ages: A. 9 yrs 7 mos; B. 5 yrs; C. 9 yrs 1 mo; D. 8 yrs 5 mos; E. 10 yrs 8 mos) showing the characteristic facial profile comprising a prominent forehead, high anterior hairline, ptosis, abnormal slant of palpebral fissures, (more...)

MRI findings. Atypical white matter lesions, wide ventricles, and choroid cysts. Note that these findings are not sufficiently distinct to specifically suggest the diagnosis of ADNP-related ID/ASD.

Note: Most individuals with ADNP-related ID/ASD are identified by use of a multigene panel or more comprehensive genomic testing in the context of evaluation of developmental delay, intellectual disability, and/ or autism spectrum disorder.

Establishing the Diagnosis

The diagnosis of ADNP-related ID/ASD is established in a proband with a heterozygous pathogenic variant in ADNP on molecular genetic testing (see Table 1).

Molecular testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing:

  • Single-gene testing. Sequence analysis of ADNP is performed first. To date, no partial or whole deletion of ADNP has been reported (see Molecular Genetics, Pathogenic variants); therefore, there is no evidence for performing gene-targeted deletion/duplication analysis if no pathogenic variant is found by sequence analysis.
  • A multigene panel that includes ADNP and other genes of interest (see Differential Diagnosis) may also be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
    For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
  • More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered if serial single-gene testing (and/or use of a multigene panel that includes ADNP) fails to confirm a diagnosis in an individual with features of an ADNP-related ID/ASD. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation).
    For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.

Table 1.

Molecular Genetic Testing Used in ADNP-Related Intellectual Disability and Autism Spectrum Disorder

Gene 1Test MethodProportion of Probands with a Pathogenic Variant 2 Detectable by This Method
ADNPSequence analysis 324 / 24 4
Gene-targeted deletion/duplication analysis 5None reported

See Molecular Genetics for information on allelic variants detected in this gene.


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Pathogenic variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include: quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.

Clinical Characteristics

Clinical Description

To date, a total of 23 individuals have been identified with a pathogenic variant in ADNP in several cohorts of patients with autism spectrum disorder/intellectual disability [Coe et al 2014, De Rubeis et al 2014, Helsmoortel et al 2014, Pescosolido et al 2014, Deciphering Developmental Disorders Study Group 2015]. One additional individual was identified in a diagnostic setting [Vandeweyer et al 2014].

In 12 of these 24 individuals, the clinical information available was sufficient to make the following preliminary generalizations about the phenotype. Of note, the oldest individual known to the authors to date is age 40 years [Author, personal observation].

Patients show a characteristic facial profile comprising a prominent forehead, high anterior hairline, ptosis, up- or downslanted palpebral fissures, wide nasal bridge, thin vermilion of the upper lip, and ear abnormalities including small low-set ears and protruding cup-shaped ears. Hand abnormalities are present, including clinodactyly, polydactyly, small fifth fingers, fetal finger pads, and prominent interphalangeal joints and distal phalanges. Several have truncal obesity (seen in 4 of 7 individuals assessed for this feature) and joint laxity (6/9).

Birth weight, length, and occipitofrontal circumference are all within the normal range. Infants often have hypotonia (9/12). Some children have seizures (2/12). Feeding difficulties and gastrointestinal problems are common (8/12), including decreased sucking or chewing, gastroesophageal reflux disease, and frequent vomiting and constipation.

All have mild to severe intellectual disability and autism spectrum disorder, characterized by stereotypic behavior and impaired social interaction.

Developmental milestones are delayed: sitting occurs between ages 7.5 and 12 months, and walking independently between 19 months and 4.5 years. Speech impairment is prominent (10/12), with expressive language ranging from no words to sentences. Bladder training is delayed in half of affected individuals.

Behavior problems may include anxiety, obsessive compulsive disorder, aggressive behavior, temper tantrums, attention deficient hyperactivity disorder (ADHD), and sleep problems.

More than half have visual problems, most commonly hypermetropia or strabismus. Two of 12 have cortical visual impairment.

Three of 12 have cardiac defects (atrial septal defect and mitral valve prolapse).

Most children have recurrent infections, including upper respiratory and urinary tract infections (7/11).

Genotype-Phenotype Correlations

With the limited number of affected individuals reported to date, no genotype-phenotype correlations can be made.


There is no evidence of reduced penetrance; all described pathogenic variants are de novo. The extent and severity of clinical findings vary among individuals.


The prevalence of pathogenic variants in ADNP is estimated at 0.17% of individuals with autism spectrum disorder (ASD) (95% binomial confidence interval: 0.083%-0.32%). It is one of the most common known single-gene causes of ASD [Helsmoortel et al 2014].

Differential Diagnosis

ADNP-related intellectual disability and autism spectrum disorders (ADNP-related ID/ASD) should be distinguished from other syndromes that include developmental delay, autism spectrum disorder, and distinctive facies; these include other chromatin remodeling disorders such as Kleefstra syndrome and Smith-Magenis syndrome, which share some findings with ADNP-related ID/ASD including autistic-like behavior with stereotypies, intellectual disability, and sleep disturbances. In both syndromes dysmorphic features differ slightly from those seen in ADNP-related ID/ASD.

  • Kleefstra syndrome is characterized by intellectual disability, childhood hypotonia, and distinctive facial features. The majority of individuals function in the moderate to severe spectrum of intellectual disability, although a few individuals have mild delay and total IQ around 70. Although most have severe expressive speech delay with little speech development, general language development is usually at a higher level, making nonverbal communication possible. A complex pattern of other findings can also be observed including heart defects, renal/urologic defects, genital defects in males, severe respiratory infections, epilepsy/febrile seizures, autistic-like features in childhood, and extreme apathy or catatonic-like features after puberty.
  • Smith-Magenis syndrome is characterized by distinctive physical features, developmental delay, cognitive impairment, and behavioral abnormalities. Infants have feeding difficulties, failure to thrive, hypotonia, hyporeflexia, prolonged napping or need to be awakened for feeds, and generalized lethargy. The majority of individuals function in the mild-to-moderate range of intellectual disability. The behavioral phenotype, including significant sleep disturbance, stereotypies, and maladaptive and self-injurious behaviors, is generally not recognized until age 18 months or older and continues to change until adulthood.


Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with ADNP-related intellectual disability and autism spectrum disorders (ADNP-related ID/ASD), the following evaluations are recommended:

  • Physical examination to assess hypotonia, joint laxity, and obesity
  • Anamnestic interview focusing on sleep problems and feeding difficulties
  • Neurologic evaluation, including EEG if seizures are suspected, and brain MRI to detect brain abnormalities (if not performed as part of the diagnostic evaluation)
  • In infants and children, comprehensive developmental assessment including gross and fine motor skills and speech and language; evaluation for autism spectrum disorder and intellectual disability
  • Psychiatric evaluation if behavioral problems are present
  • Ophthalmologic examination and vision assessment, including electrophysiologic and visual perception examination to detect cortical visual impairment
  • Ultrasound of the heart to evaluate for cardiac anomalies
  • Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

Treatment is symptomatic; no specific therapy is available. Routine medical care by a pediatrician or primary care physician is recommended:

  • Speech, occupational, and physical therapy
  • Specialized learning programs depending on individual needs
  • Treatment of any neuropsychiatric features including sleep disorders, behavioral problems, and/or seizures
  • Nutritional support if necessary
  • Routine treatment of cardiac and ophthalmologic findings

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Administration of NAP, a neuroprotective octapeptide (NAPVSPIQ), has been reported to ameliorate some of the cognitive abnormalities observed in a knockout mouse model [Bassan et al 1999, Vulih-Shultzman et al 2007]. It restores learning and memory and reduces neurodegeneration in Adnp+/− mice. The drug name for NAP is davunetide, a candidate for treatment of multiple selected neurologic disorders. Intranasal and intravenous formulations of the drug have been shown to cross the blood-brain barrier. Phase II and Phase III clinical trials showed good tolerance without significant side effects. Although it is not known whether the disease is the result of a loss of function of ADNP and although the mouse model has not been evaluated for autistic traits, the observations raise hope for treatment in patients with an ADNP-related ID/ASD [Vandeweyer et al 2014].

Search in the US and in Europe for access to information on clinical studies for a wide range of diseases and conditions.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members. This section is not meant to address all personal, cultural, or ethical issues that individuals may face or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

ADNP-related intellectual disability and autism spectrum disorders (ADNP-related ID/ASD) is expressed in an autosomal dominant manner. All affected individuals reported to date have a de novo pathogenic variant.

Risk to Family Members

Parents of a proband

Sibs of a proband

Offspring of a proband

  • Each child of an individual with ADNP-related ID/ASD has a 50% chance of inheriting the ADNP pathogenic variant.
  • Individuals with ADNP-related syndromic autism are not known to reproduce.

Other family members. Given that all probands with ADNP-related ID/ASD reported to date have the disorder as a result of a de novo ADNP pathogenic variant, the risk to other family members is presumed to be low.

Related Genetic Counseling Issues

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to the parents of an affected individual.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Preimplantation Genetic Diagnosis

Risk to future pregnancies is presumed to be low as the proband most likely has a de novo ADNP pathogenic variant. However, couples may wish to consider prenatal testing or preimplantation genetic diagnosis as risk may be slightly greater than in the general population (though still <1%) because of the possibility of parental germline mosaicism.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • ADNP Kids
  • ADNP Kids Research Foundation
  • American Association on Intellectual and Developmental Disabilities (AAIDD)
    501 3rd Street Northwest
    Suite 200
    Washington DC 20001
    Phone: 202-387-1968
    Fax: 202-387-2193
  • Medline Plus
  • National Center on Birth Defects and Developmental Disabilities
    Phone: 800-232-4636 (toll-free)
  • Simons Searchlight Registry
    Simons Searchlight is characterizing the medical, behavioral, and learning features of individuals with specific documented genetic changes associated with autism and other neurodevelopmental disorders with the goal of improving clinical care and treatment for these individuals.
    Phone: 855-329-5638
    Fax: 570-214-7327

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

ADNP-Related Intellectual Disability and Autism Spectrum Disorder: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
ADNP20q13​.13Activity-dependent neuroprotector homeobox proteinADNP databaseADNPADNP

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for ADNP-Related Intellectual Disability and Autism Spectrum Disorder (View All in OMIM)


Gene structure. ADNP spans about 40 kb of genomic DNA. It contains five exons, of which the last three are translated. ADNP is a vasoactive intestinal peptide (VIP)-responsive gene, first identified in murine P19 carcinoma cells. VIP, a neuroprotective peptide, is active during embryonic development, in particular during the time of neuronal tube closure. It protects damaged nerve cells from cell death by inducing glia-derived, survival-promoting substances [Helsmoortel et al 2014]. For a detailed summary of gene and protein information, see Table A, Gene.

Benign variants. Sequencing identified an inherited variant encoding p.Gly1094ProfsTer5 [O'Roak et al 2012]. The reported frameshift affects the ninth amino acid from the C-terminal end of the protein, and does not affect any protein domains.

Pathogenic variants. All variants described are heterozygous frameshift or nonsense variants in the 3′ end of the fifth and last exon of ADNP and predict a premature termination [Helsmoortel et al 2014]. Only a single pathogenic variant affecting exon 4 (p.Tyr719Ter) has been described [Vandeweyer et al 2014].

No affected individuals with deletion of ADNP have been reported; however, contiguous gene deletions encompassing ADNP do occur in individuals who share some clinical characteristics with those discussed here [Helsmoortel et al 2014].

Table 2.

ADNP Variants Discussed in This GeneReview

Variant ClassificationDNA Nucleotide ChangePredicted Protein ChangeReference Sequences

Note on variant classification: Variants listed in the table have been provided by the authors. GeneReviews staff have not independently verified the classification of variants.

Note on nomenclature: GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​ See Quick Reference for an explanation of nomenclature.

Normal gene product. The protein consists of 1,102 amino acids and contains nine zinc fingers and three other functional domains, including NAP, an 8-amino-acid neuroprotectant peptide (NAPVSIPQ), a DNA-binding homeobox domain, and a HP1-binding motif.

Abnormal gene product. The mutational mechanism is not known, but it has been hypothesized that the mutated ADNP protein competes with the wild-type protein to bind with the BAF complexes (the functional eukaryotic equivalent of the SWI/SNF complex that is involved in the regulation of gene expression in yeast) [Helsmoortel et al 2014].

Wild-type ADNP directly binds genomic DNA and mediates the recruitment of the BAF complex through its C-terminal end. The C-terminal end is truncated in all individuals with an ADNP-related disorder. It has been hypothesized that the mutant protein still binds to the DNA, but is no longer capable of recruiting the BAF complex, leading to diminished functionality of the complex as a whole and ultimately to deregulation of several cellular processes [Helsmoortel et al 2014].


Literature Cited

  • Bassan M, Zamostiano R, Davidson A, Pinhasov A, Giladi E, Perl O, Bassan H, Blat C, Gibney G, Glazner G, Brenneman DE, Gozes I. Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide. J Neurochem. 1999;72:1283–93. [PubMed: 10037502]
  • Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, Li D, Amaral D, Brown N, Lockhart PJ, Scheffer IE, Alberti A, Shaw M, Pettinato R, Tervo R, de Leeuw N, Reijnders MR, Torchia BS, Peeters H, O'Roak BJ, Fichera M, Hehir-Kwa JY, Shendure J, Mefford HC, Haan E, Gécz J, de Vries BB, Romano C, Eichler EE. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014;46:1063–71. [PMC free article: PMC4177294] [PubMed: 25217958]
  • De Rubeis S, He X, Goldberg AP, Poultney CS, Samocha K, Cicek AE, Kou Y, Liu L, Fromer M, Walker S, Singh T, Klei L, Kosmicki J, Shih-Chen F, Aleksic B, Biscaldi M, Bolton PF, Brownfeld JM, Cai J, Campbell NG, Carracedo A, Chahrour MH, Chiocchetti AG, Coon H, Crawford EL, Curran SR, Dawson G, Duketis E, Fernandez BA, Gallagher L, Geller E, Guter SJ, Hill RS, Ionita-Laza J, Jimenz Gonzalez P, Kilpinen H, Klauck SM, Kolevzon A, Lee I, Lei I, Lei J, Lehtimäki T, Lin CF, Ma'ayan A, Marshall CR, McInnes AL, Neale B, Owen MJ, Ozaki N, Parellada M, Parr JR, Purcell S, Puura K, Rajagopalan D, Rehnström K, Reichenberg A, Sabo A, Sachse M, Sanders SJ, Schafer C, Schulte-Rüther M, Skuse D, Stevens C, Szatmari P, Tammimies K, Valladares O, Voran A, Li-San W, Weiss LA, Willsey AJ, Yu TW, Yuen RK, Cook EH, Freitag CM, Gill M, Hultman CM, Lehner T, Palotie A, Schellenberg GD, Sklar P, State MW, Sutcliffe JS, Walsh CA, Scherer SW, Zwick ME, Barett JC, Cutler DJ, Roeder K, Devlin B, Daly MJ, Buxbaum JD, et al. Synaptic, transcriptional and chromatin genes disrupted in autism. Nature. 2014;515:209–15. [PMC free article: PMC4402723] [PubMed: 25363760]
  • Deciphering Developmental Disorders Study Group. Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015;519:223–8. [PMC free article: PMC5955210] [PubMed: 25533962]
  • Helsmoortel C, Vulto-van Silfhout AT, Coe BP, Vandeweyer G, Rooms L, van den Ende J, Schuurs-Hoeijmakers JH, Marcelis CL, Willemsen MH, Vissers LE, Yntema HG, Bakshi M, Wilson M, Witherspoon KT, Malmgren H, Nordgren A, Annerén G, Fichera M, Bosco P, Romano C, de Vries BB, Kleefstra T, Kooy RF, Eichler EE, Van der Aa N. A. SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. Nat Genet. 2014;46:380–4. [PMC free article: PMC3990853] [PubMed: 24531329]
  • O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012;338:1619–22. [PMC free article: PMC3528801] [PubMed: 23160955]
  • Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM. Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein. J Med Genet. 2014;51:587–9. [PMC free article: PMC4135390] [PubMed: 25057125]
  • Vandeweyer G, Helsmoortel C, Van Dijck A, Vulto-van Silfhout AT, Coe BP, Bernier R, Gerdts J, Rooms L, van den Ende J, Bakshi M, Wilson M, Nordgren A, Hendon LG, Abdulrahman OA, Romano C, de Vries BB, Kleefstra T, Eichler EE, Van der Aa N, Kooy RF. The transcriptional regulator ADNP links the BAF (SWI/SNF) complexes with autism. Am J Med Genet C Semin Med Genet. 2014;166C:315–26. [PMC free article: PMC4195434] [PubMed: 25169753]
  • Vulih-Shultzman I, Pinhasov A, Mandel S, Grigoriadis N, Touloumi O, Pittel Z, Gozes I. Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model. J Pharmacol Exp Ther. 2007;323:438–49. [PubMed: 17720885]

Chapter Notes

Author Notes

The research group Cognitive Genetics is part of the research cluster Medical Genetics of the Faculty of Pharmaceutical, Biomedical, and Veterinary Sciences of the University of Antwerp. Our mission is to identify genetic causes of cognitive disorders and to study the molecular defects in order to eventually develop rational therapy.


We thank the families with individuals affected by an ADNP pathogenic variant who are participating in our research programs.

Revision History

  • 7 April 2016 (bp) Review posted live
  • 18 December 2015 (avd) Original submission
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