ADNP SYNDROME / HVDAS
This website is currently not being updated and a merge of everything will be going to the ADNP Kids Research Foundation page.
Please visit www.ADNPfoundation.org for all up to date information on ADNP, Research including our Drug Trial, Newly Diagnosed, Contact Registry and How to Connect with ADNP Families.
Please visit www.ADNPfoundation.org for all up to date information on ADNP, Research including our Drug Trial, Newly Diagnosed, Contact Registry and How to Connect with ADNP Families.
ADNP Syndrome (also known as Helsmoortel-VanDerAa Syndrome / HVDAS) is an extremely rare neurodevelopmental genetic disorder caused by a mutation in the ADNP (Activity Dependent Neuroprotective Protein) gene. This important brain gene affects brain formation and development, as well as brain function and acts as protein-protecting nerve cells against electrical blockade. Recent studies identified ADNP as a regulator of axonal transport, dendritic spine plasticity and autophagy. The ADNP gene also affects many other organs and functions of the body.
Activity-dependent neuroprotective protein (ADNP) is a most frequent autism spectrum disorder (ASD)-associated gene and the only protein significantly decreasing in the serum of Alzheimer's disease (AD)
ADNP Syndrome/HVDAS can cause problems with the neurological, cardiovascular, endocrine, immune, musculoskeletal and gastrointestinal systems, as well as vision, hearing, growth, feeding and sleep. Developmentally, it can cause mild to severe delays in intelligence, speech and global motor planning, (including gross motor, fine motor and oral motor). It causes behavior disorders such as Autism Spectrum Disorder (ASD) in a substantial proportion of cases. In fact, it is estimated: ADNP to be mutated in at least 0.17% of genetic autism cases, making it one of the most frequent ASD-associated genes known to date.
ADNP Syndrome/HVDAS is estimated to affect 1 in 27,000 children the United States and Europe. To date, there are 205 ADNP Syndrome children diagnosed in our database. Males and females are both likely to be affected by this neuro-genetic disorder. (60% boys / 40% girls) However, the full extent of of ADNP Syndrome is unknown.
TESTING: There is currently no single gene test for ADNP Syndrome, however, ADNP has recently been placed into developmental and autism genetic panels at both GeneDx and Ambry Genetics.
UNIQUE BIOMARKER: A recent study found that 81% of children with ADNP Syndrome have early tooth eruption. Most children had a full mouth of baby teeth by their first birthday. This biomarker is easy to identify and does not occur with any other known syndrome, making it a unique biomarker to ADNP that can assist in a very early age diagnosis. Click here for the full story and link to the study.
RESEARCH:
In 2016, the ADNP Kids Research Foundation was founded. It is a grassroots IRS accredited 501(c)3 based out of Brush Prairie, Washington.
The ADNP Kids Research Foundation is the only non-profit organization in the world to fund clinical research, publish papers, and promote awareness for ADNP Syndrome. It’s MISSION is to advance the awareness and understanding of ADNP Syndrome by supporting research for therapeutic treatments and drug development, increasing awareness and scientific understanding, promoting individualized specialty care and protocol, supporting families and providing information to help all individuals with ADNP realize their full potential and have a better quality of life.
#CureADNP
There is currently no treatment or cure for ADNP Syndrome. However, in November of 2018 the FDA gave permission to move forward with a pediatric clinical drug trial. There are almost 200 children waiting for this life changing treatment but we now have the hurdle of raising approximately five-million dollars to start the clinical trial. If you or someone you know would like to make a donation, please contact the ADNP Kids Research Foundation.
You can help by donating to the ADNP Kids Research Foundation by clicking HERE.
In 2016, the ADNP Kids Research Foundation was founded. It is a grassroots IRS accredited 501(c)3 based out of Brush Prairie, Washington.
The ADNP Kids Research Foundation is the only non-profit organization in the world to fund clinical research, publish papers, and promote awareness for ADNP Syndrome. It’s MISSION is to advance the awareness and understanding of ADNP Syndrome by supporting research for therapeutic treatments and drug development, increasing awareness and scientific understanding, promoting individualized specialty care and protocol, supporting families and providing information to help all individuals with ADNP realize their full potential and have a better quality of life.
#CureADNP
There is currently no treatment or cure for ADNP Syndrome. However, in November of 2018 the FDA gave permission to move forward with a pediatric clinical drug trial. There are almost 200 children waiting for this life changing treatment but we now have the hurdle of raising approximately five-million dollars to start the clinical trial. If you or someone you know would like to make a donation, please contact the ADNP Kids Research Foundation.
You can help by donating to the ADNP Kids Research Foundation by clicking HERE.
ADDITIONAL INFORMATION
The ADNP Gene
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ADNP Statistics
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Where in the World
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Treatment | Management
There is currently NO CURE or FDA approved treatment for ADNP Syndrome.
The treatment of individuals with ADNP Syndrome should be symptomatically directed towards the needs of each individual. Individuals can have mild to severe delays in some or all areas of motor planning. Physical therapy, occupational therapy, feeding therapy and speech therapy are extremely important and should be started as soon as possible. Specialized treatment for speech such as the PROMPT Method has proven to be extremely effective for children with ADNP who show symptoms of mild to severe oral motor planning dysfunction, apraxia and/or dysarthria. Many individuals have quite severe difficulty in planning and coordinating the movement necessary for speech. These conditions are usually seen in traumatic brain injury patients who require aggressive rehabilitation therapy. Behavioral (ABA) therapy, sensory processing therapy, therapeutic music therapy programs, water therapy and horse therapy has been very beneficial in helping children with ADNP Syndrome reach their full potential.
In ADNP, there are associated life threatening conditions including heart abnormalities, respiratory problems, sleep apnea, seizures and complications from surgeries and compromised immune systems that require treatment from relevant specialists, such as neurologists, cardiologists, and surgeons.
There is currently NO CURE or FDA approved treatment for ADNP Syndrome.
The treatment of individuals with ADNP Syndrome should be symptomatically directed towards the needs of each individual. Individuals can have mild to severe delays in some or all areas of motor planning. Physical therapy, occupational therapy, feeding therapy and speech therapy are extremely important and should be started as soon as possible. Specialized treatment for speech such as the PROMPT Method has proven to be extremely effective for children with ADNP who show symptoms of mild to severe oral motor planning dysfunction, apraxia and/or dysarthria. Many individuals have quite severe difficulty in planning and coordinating the movement necessary for speech. These conditions are usually seen in traumatic brain injury patients who require aggressive rehabilitation therapy. Behavioral (ABA) therapy, sensory processing therapy, therapeutic music therapy programs, water therapy and horse therapy has been very beneficial in helping children with ADNP Syndrome reach their full potential.
In ADNP, there are associated life threatening conditions including heart abnormalities, respiratory problems, sleep apnea, seizures and complications from surgeries and compromised immune systems that require treatment from relevant specialists, such as neurologists, cardiologists, and surgeons.
#ADNPkids
PRINTABLE (PDF) ADNP FACT-SHEET
S Y M P T O M / P H E N O T Y P E S / C O N D I T I O N S
Some of the symptoms/conditions caused by ADNP gene mutations.
S Y M P T O M / P H E N O T Y P E S / C O N D I T I O N S
Some of the symptoms/conditions caused by ADNP gene mutations.
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NEUROLOGICAL
Includes but is not limited to: . cerebral atrophy – varying locations . diminishing white matter or white matter volume loss . white matter lesions . thinning white matter . thinning corpus collosum . under developed white matter . extra axial fluid . prominent or enlarged ventricles – varying locations . poor gray/white differentiation . bulbar palsy . bulbus olfactorius . polymicrogyria . macrocephaly . hydrocephalus . prominence of subarachnoid spaces . choroid plexus & pineal cysts . chronic subdural hematomas . dilated Virchow-Robin spaces . seizures (grand mal, petite mal, absent, nocturnal) HEART
Includes but is not limited to: . ventricular septal defect . atrial septal defect . right aortic arch . vascular compression of esophagus by aberrant artery . enlarged aorta . mitral valve prolapse/mild mitral regurgitation . tachycardia . patent ductus arteriosus . peripheral pulmonary artery stenosis . fallot tetralogy |
EEG test on ADNP boy
EEG test on ADNP girl
Post open heart surgery on young ADNP boy
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ORAL MOTOR and SPEECH
Includes but is not limited to: . feeding disorder . mild speech delay to non-verbal . oral-motor dysfunction . oropharyngeal dysphagia . frank silent aspiration . apraxia . dyspraxia . dysarthria . expressive speech delay |
ADNP boy in hospital
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DEVELOPMENTAL
Includes but is not limited to: . intellectual deficits (mild to severe) . speech delay (see oral motor & speech) . gross motor disorder . fine motor disorder . autism spectrum disorder . pervasive development disorder . mixed receptive-expressive disorder . phonological disorder . motor skills disorder . hypotonia . sensory processing disorder . attention deficit hyperactivity disorder . obsessive compulsive disorder . anxiety disorder |
Gross motor delayed ADNP boy using walking device
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Gross motor delayed ADNP girl using walking device
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Therapy table time with young ADNP boy
BEHAVIOR and AUTISM
Includes but is not limited to:
The behavior and autistic traits in children with ADNP syndrome appear very similar, making it a unique syndrome in that there seems to be little differences in autistic traits. In the younger years, children with ADNP Syndrome are usually extremely loving and seeking of direct interaction with adults, but surprisingly not with other children. (contributing factor to why many before WES were tested for Angelman Syndrome). This happy and direct social interaction with adults is not a trait normally seen in typical Autism, however it is a very common trait, seen in approximately 95% of patients with ADNP. Given that most children are non-verbal, cognitively delayed and medically complicated, many are not being diagnosed with ASD correctly until they receive an ADNP mutation diagnosis and are re-evaluated. This makes early diagnosis most important so that children can begin the aggressive therapies that they need to reach their full potential! Parents report that ABA is one of the most successful therapy plans and aggressive treatment shows significant improvement in many.
. Extremely happy demeanor as infant and toddler (many tested for Angelman Syndrome)
. Direct interaction with adults. YES- patients seem very happy, loving, and interested in interactions with adults
. Direct interaction with peers. NO - patients do not directly interact with peers or siblings and seem to enjoy indirect or side by side interaction. Often children with laugh and smile at nothing when other children are around, similar to Angleman Syndrome.
. Extreme love for music - significantly more than children of the same age
. Extreme love for water - significantly more than children of the same age
. Sensory Processing Disorder - patients are both sensory seeking and sensory avoiding
. Oral Sensory Seeking - patients constantly put objects in mouth, lick hands, chew on objects
. Stimming - including rocking, hand flapping, clapping, jumping up and down and tightening body when happy
. OCD and ADHD is noted in a smaller amount of children
. Developed behavior issues such as hitting, biting, screaming and extreme frustration/impatience
. Development of problematic/obsessive behaviors with regard to water drinking, eating and hunger
The importance of the connection to autism and behaviors to an ADNP mutation is great. Many do not see it necessary to have the child re-examined for an autism diagnosis if they were previously evaluated at a younger age and did not receive a diagnosis at that time. However, as they grow up and traits not recognized as a young toddler become more apparent, it is best to have the child re-evaluated by a qualified team. Under the research section, you can find some suggested qualified ADNP related studies that can do this evaluation for you at no charge. There are amazing therapy options available for your child. The earlier you start, the better the long term outcome could be for your child.
Includes but is not limited to:
The behavior and autistic traits in children with ADNP syndrome appear very similar, making it a unique syndrome in that there seems to be little differences in autistic traits. In the younger years, children with ADNP Syndrome are usually extremely loving and seeking of direct interaction with adults, but surprisingly not with other children. (contributing factor to why many before WES were tested for Angelman Syndrome). This happy and direct social interaction with adults is not a trait normally seen in typical Autism, however it is a very common trait, seen in approximately 95% of patients with ADNP. Given that most children are non-verbal, cognitively delayed and medically complicated, many are not being diagnosed with ASD correctly until they receive an ADNP mutation diagnosis and are re-evaluated. This makes early diagnosis most important so that children can begin the aggressive therapies that they need to reach their full potential! Parents report that ABA is one of the most successful therapy plans and aggressive treatment shows significant improvement in many.
. Extremely happy demeanor as infant and toddler (many tested for Angelman Syndrome)
. Direct interaction with adults. YES- patients seem very happy, loving, and interested in interactions with adults
. Direct interaction with peers. NO - patients do not directly interact with peers or siblings and seem to enjoy indirect or side by side interaction. Often children with laugh and smile at nothing when other children are around, similar to Angleman Syndrome.
. Extreme love for music - significantly more than children of the same age
. Extreme love for water - significantly more than children of the same age
. Sensory Processing Disorder - patients are both sensory seeking and sensory avoiding
. Oral Sensory Seeking - patients constantly put objects in mouth, lick hands, chew on objects
. Stimming - including rocking, hand flapping, clapping, jumping up and down and tightening body when happy
. OCD and ADHD is noted in a smaller amount of children
. Developed behavior issues such as hitting, biting, screaming and extreme frustration/impatience
. Development of problematic/obsessive behaviors with regard to water drinking, eating and hunger
The importance of the connection to autism and behaviors to an ADNP mutation is great. Many do not see it necessary to have the child re-examined for an autism diagnosis if they were previously evaluated at a younger age and did not receive a diagnosis at that time. However, as they grow up and traits not recognized as a young toddler become more apparent, it is best to have the child re-evaluated by a qualified team. Under the research section, you can find some suggested qualified ADNP related studies that can do this evaluation for you at no charge. There are amazing therapy options available for your child. The earlier you start, the better the long term outcome could be for your child.
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FACE and BODY
Includes but is not limited to: . early tooth eruption . prominent forehead . high hairline . down-slanting palpebral fissures . notched eyelids . broad nasal bridge . thin upper lip . tight frenulum . 5th finger clinodactyly . low muscle tone (more common) . high muscle tone (less common) HEARING
Includes but is not limited to: . central auditory processing disorder . abnormal testing . narrow ear meatus . fluid – otitis media . ear tubes GASTROINTESTINAL
Includes but is not limited to: . GERD/reflux . cyclic vomiting . chronic constipation . chronic diarrhea . delayed digestion . stomach ulcers and scarring . irritable and inflammatory bowel conditions SLEEPING:
Includes but is not limited to: . sleep apnea . chronic sleeping difficulties . chronic nighttime waking . poor sleep pattern . early waking |
ENDOCRINOLOGY:
Includes but not limited to, (abnormal) . growth hormone . thyroid . cholesterol . iron . carnitine . creatine . vitamin D . vitamin B12 . HG11 
VISION
Includes but is not limited to: . cortical vision impairment (CVI) . farsightedness . nearsightedness . astigmatism . strabismus . ptosis . nystagmus . visual processing disorder . congenital cyst . anomalous optic nerve heads . delayed visual maturation . retinis pigmentosis . restricted peripheral vision . unspecified disorder of refraction and accommodation . lazy eye . isolated foveal hypoplasia |
THE SYNDROME WAS FIRST DESCRIBED IN 2014
Helsmoortal-VanDerAA Syndrome (HVDAS) aka ADNP Syndrome is caused by a heterozygous de novo mutation in the ADNP gene on chromosome 20q13. The syndrome was first identified in February 2014 in a publication titled A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. (See page titled Publications for a link to the full article.)
Helsmoortal-VanDerAA Syndrome (HVDAS) aka ADNP Syndrome is caused by a heterozygous de novo mutation in the ADNP gene on chromosome 20q13. The syndrome was first identified in February 2014 in a publication titled A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP. (See page titled Publications for a link to the full article.)
ADNP IN THE NEWS
Click on picture to go to Health Central story link
BOY BECOMES DEPUTY FOR A DAY
Click on picture to go to story *make sure to 'expand' the story to see all of the adorable photos in the story
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(France) ADNP boy with Dr. Illana Gozes
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ADNPkids has joined with The Broad Institute of MIT and Harvard to support The Rare Genomes Project
In partnership with patients and advocates just like you. If you or a loved one is still genetically undiagnosed, join this patient-driven research study that uses next-generation sequencing
to learn more about the genetic causes of ultra-rare diseases.
Please visit raregenomes.org to learn more and say “count me in” today.
In partnership with patients and advocates just like you. If you or a loved one is still genetically undiagnosed, join this patient-driven research study that uses next-generation sequencing
to learn more about the genetic causes of ultra-rare diseases.
Please visit raregenomes.org to learn more and say “count me in” today.
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