Arboleda-Tham Syndrome

Arboleda-Tham syndrome is a rare genetic condition that affects brain development, learning, speech, growth, facial features, and several organs such as the heart and gut. It happens when a single copy of the KAT6A gene does not work properly. The KAT6A gene makes a protein that helps control how other genes turn on and off through a process called histone acetylation. When KAT6A is changed (mutated), many body systems can develop differently. Children usually have developmental delay, speech and language delay, and intellectual disability of varying degrees. Many children also have low muscle tone, feeding problems, reflux or constipation, sleep difficulties, eye movement problems (like strabismus), and sometimes heart defects. Most variants arise de novo (new in the child), but the condition follows autosomal dominant inheritance, so it can be passed on if a parent carries the variant. There is no single cure, but early therapies, educational support, medical monitoring, and family-centered care can help children reach their best potential. ScienceDirect+3National Organization for Rare Disorders+3Orpha+3

Arboleda-Tham syndrome is a rare genetic condition caused by a change (mutation) in one copy of the KAT6A gene. The gene helps control how other genes turn on and off by adding acetyl groups to histones (proteins that package DNA). When KAT6A does not work well, it disturbs early brain and body development and leads to a pattern of developmental delay, speech/language problems, low muscle tone (hypotonia), feeding and gut issues, learning disability, and sometimes heart, eye, or facial differences. Most cases happen as brand-new (“de novo”) variants and are not inherited from a parent. Orpha+3PMC+3PMC+3

Other names

The syndrome has several names used in clinics and papers. These all refer to the same condition:

• KAT6A syndrome. National Organization for Rare Disorders

• KAT6-related intellectual disability–craniofacial anomalies–cardiac defects syndrome. This longer description lists the most common features. Orpha

• Autosomal dominant intellectual disability 32 (MRD32) or OMIM #616268 in genetic catalogs. BioMed Central

• Arboleda-Tham syndrome (ARTHS)—the name honoring the first describing teams. PMC

Types

Doctors do not use strict “types,” but research papers often group people by the kind or location of the KAT6A gene change because this can shape features and severity:

1. Protein-truncating variants (nonsense and frameshift). These changes cut the protein short. Many children with truncating variants have more severe language problems and global delays. PMC+1

2. Splice-site variants. These disrupt the way gene pieces are joined. They often act like truncating variants by producing an unstable message or a shortened protein. BioMed Central

3. Missense variants. A single letter change swaps one amino acid for another. Some missense variants affect the catalytic acetyltransferase domain and may change enzyme activity. Severity can vary. ScienceDirect

4. Early-exon vs late-exon truncating variants. Earlier studies suggested clinical differences depending on where the stop occurs in the gene; later work still shows wide variability, so exact prediction for a child is limited. PMC

5. Inherited vs de novo variants. Most are de novo, but familial transmission and parental mosaicism are reported; inherited cases can still show variable features in different relatives. ScienceDirect

6. Prenatal-identified cases. Increasingly found by prenatal exome when ultrasound shows anomalies; prenatal data are growing but remain limited. Obstetrics & Gynecology+1

Causes

Because Arboleda-Tham syndrome is a monogenic disorder, the “cause” is a pathogenic variant in KAT6A. Below are 20 clear, mechanism-based causes and contexts you will see in reports:

1. Nonsense variants that insert a premature stop codon and truncate KAT6A. PubMed

2. Frameshift variants from small insertions or deletions that change the reading frame and stop the protein early. BioMed Central

3. Splice-site variants that mis-splice RNA, often leading to exon skipping and a nonfunctional protein. BioMed Central

4. Missense variants within the MYST/acetyltransferase domain that alter catalytic function. ScienceDirect

5. Haploinsufficiency, where one working copy of KAT6A is not enough for normal development. PMC

6. Nonsense-mediated mRNA decay of abnormal transcripts, reducing KAT6A protein levels. ScienceDirect

7. Dominant-negative effects (suspected for some variants) that may interfere with normal protein complexes. Evidence is evolving. PMC

8. Disrupted histone H3 acetylation, leading to wide gene-expression changes during development. ScienceDirect

9. Epigenetic dysregulation of neuronal, cardiac, and craniofacial developmental pathways. PMC

10. De novo occurrence in the child (new variant not present in parents), the most common scenario. BioMed Central

11. Autosomal dominant inheritance from an affected parent, less common but documented. ScienceDirect

12. Parental germline or somatic mosaicism, explaining recurrence in a family even when blood testing of parents looks negative. ScienceDirect

13. Variant clustering in functional domains (e.g., MYST domain), potentially shaping phenotype. ScienceDirect

14. Interaction failure with partner proteins in the KAT6A complex, weakening chromatin remodeling. ScienceDirect

15. Transcriptional network disruption in early brain development (neurogenesis and synapse genes). BioRxiv

16. Abnormal craniofacial patterning signals due to altered regulation of developmental genes. PMC

17. Cardiac morphogenesis pathway effects, which help explain congenital heart defects in a subset. PMC

18. Gastrointestinal motility gene dysregulation, contributing to reflux and constipation. National Organization for Rare Disorders

19. Sleep-wake regulation pathway changes, consistent with frequent sleep disturbances. kat6a.org

20. Immune and endocrine pathway involvement reported in some families (e.g., immune dysfunction, pituitary anomalies), still under study. ScienceDirect

Symptoms and signs

1. Global developmental delay. Children reach milestones later than peers. Delays span motor, language, and social areas. Early therapies help. National Organization for Rare Disorders

2. Intellectual disability. The degree ranges from mild to severe. Learning support and individualized education plans are essential. Orpha

3. Speech and language delay. Expressive speech is especially affected. Augmentative and alternative communication (AAC) can support communication while speech skills grow. MDPI

4. Hypotonia (low muscle tone). Babies may feel “floppy” and feed less effectively. Physical and occupational therapy can improve strength and posture. MDPI

5. Feeding difficulties and poor weight gain. Reflux, oromotor dysfunction, and sensory issues can make feeding hard. Swallow therapy and reflux management help. National Organization for Rare Disorders

6. Gastrointestinal problems. Reflux and constipation are common and may persist. They respond to diet, positioning, and medication when needed. National Organization for Rare Disorders

7. Sleep disturbance. Trouble falling or staying asleep can affect daytime function. Behavioral sleep strategies and medical review are useful. kat6a.org

8. Distinctive facial features. Many children have a broad nasal tip, thin or tented upper lip, high or broad forehead, and arched eyebrows; features can change with age. PMC+1

9. Microcephaly (small head size) or other skull differences. Head growth can be below average, and skull shape can vary. Developmental monitoring is needed. PMC

10. Eye findings. Strabismus (misaligned eyes), ptosis (droopy lid), and refractive errors can occur; early eye care helps prevent vision loss. BioMed Central

11. Hearing issues. Some children have conductive or sensorineural hearing loss, which can worsen speech delay if untreated. Audiology checks are important. National Organization for Rare Disorders

12. Cardiac anomalies. Congenital heart defects, such as septal defects or more complex lesions, are reported; some need surgery. PMC+1

13. Behavioral features and autism traits. Autistic features, sensory sensitivities, and attention problems may appear, but many children show strong social interest. MDPI+1

14. Frequent infections. Recurrent respiratory or ear infections are described in cohorts; immune evaluation is considered if infections are severe. kat6a.org

15. Seizures (less common but reported). If present, EEG and neurology input guide treatment. kat6a.org

Diagnostic tests

A) Physical exam and bedside assessments

1. Comprehensive pediatric physical exam. The doctor reviews growth, head size, facial features, muscle tone, joints, skin, heart sounds, and abdomen to look for patterns typical of KAT6A syndrome and to guide referrals. National Organization for Rare Disorders

2. Neurologic exam. Checks tone, reflexes, strength, coordination, and developmental level. It helps document hypotonia and motor delays and decide if imaging or therapies are needed. PMC

3. Developmental assessment. Standard tools (e.g., Bayley Scales) measure cognition, language, and motor skills to set therapy goals and track progress. Johns Hopkins University

4. Growth and nutrition evaluation. Serial weight, length, and head circumference identify feeding challenges and growth faltering so that diet and feeding plans can be adjusted early. National Organization for Rare Disorders

5. Dysmorphology consultation. A genetics clinician evaluates facial and body features and reviews family history to recognize syndromic patterns and recommend gene testing. Orpha

B) Manual/functional tests and clinical screenings

6. Speech-language and oromotor evaluation. Looks at articulation, receptive/expressive language, and mouth-muscle coordination; informs therapy and AAC supports. MDPI

7. Feeding and swallow study (clinical). A therapist assesses posture, suck–swallow–breathe coordination, texture tolerance, and sensory responses to guide feeding strategies. National Organization for Rare Disorders

8. Behavioral and autism screening. Tools such as M-CHAT-R or other standardized screens flag social communication differences and repetitive behaviors for early intervention. MDPI

9. Sleep assessment. Sleep histories and diaries identify problems with sleep onset, night waking, or breathing that may need behavioral plans or further testing. kat6a.org

10. Vision and hearing screening. Early refraction checks, alignment testing, and audiology screens detect issues that can worsen language and learning delays if untreated. BioMed Central+1

C) Laboratory and pathological tests

11. Chromosomal microarray (CMA). Often the first-line genetic test in developmental delay; it detects large deletions/duplications but not single-letter KAT6A variants; useful early in the workup. National Organization for Rare Disorders

12. Exome or genome sequencing. The main test that detects single-gene variants in KAT6A and confirms the diagnosis; can be done postnatal or prenatal. ScienceDirect+1

13. Targeted KAT6A gene testing. Used when clinical suspicion is high or to test parents and relatives for the family variant and inheritance counseling. BioMed Central

14. RNA studies / splice assays (in specialized labs). Help interpret uncertain splice-site variants by showing abnormal RNA splicing. BioMed Central

15. Basic metabolic panel and thyroid screen. Not specific to KAT6A, but rule out treatable contributors to delay or poor growth and provide a baseline. National Organization for Rare Disorders

D) Electrodiagnostic and physiologic tests

16. Electroencephalogram (EEG). Used if there are spells concerning for seizures or regression. Guides antiseizure treatment when needed. kat6a.org

17. Electrocardiogram (ECG). Screens heart rhythm and conduction in children with congenital heart disease or palpitations. Complements structural imaging. PMC

18. Polysomnography (sleep study). Considered when sleep problems are severe or when sleep-disordered breathing is suspected. Helps tailor management. kat6a.org

E) Imaging tests

19. Echocardiogram. Ultrasound of the heart to look for septal defects, valve problems, or other malformations found in a subset of children; findings guide cardiology care or surgery. PMC+1

20. Brain MRI. Performed if there are neurologic red flags (e.g., seizures, focal findings, microcephaly). Patterns may be nonspecific but help exclude other causes and plan supports. PMC

Non-pharmacological treatments (therapies & others)

Each item includes a brief description (what), purpose (why), and mechanism (how it helps).

1. Early developmental intervention. Start coordinated services in infancy (physiotherapy, occupational therapy, speech/feeding). Purpose: maximize motor, language, social, and self-care skills. Mechanism: high-repetition, play-based neurodevelopmental training supports brain plasticity and compensatory pathways. BioMed Central+1

2. Speech-language therapy with total communication. Combine oral speech, AAC (picture boards, apps), and sign. Purpose: reduce frustration and support learning. Mechanism: gives alternate channels while speech emerges; AAC does not block speech and can promote it. BioMed Central

3. Feeding therapy & safe swallow management. Led by SLP/OT; consider thickened feeds and posture strategies. Purpose: improve nutrition, reduce aspiration and reflux pain. Mechanism: optimizes oral-motor coordination and protects airway during swallowing. BioMed Central

4. Physiotherapy for hypotonia. Task-specific strengthening, balance, and endurance. Purpose: earlier motor milestones, better stamina. Mechanism: progressive overload and motor learning to counter hypotonia and joint laxity. BioMed Central

5. Occupational therapy for daily skills. Fine-motor training and adaptive equipment. Purpose: independence in dressing, writing, and play. Mechanism: graded practice and environmental modification. BioMed Central

6. Behavioral therapy (ABA-informed strategies). Structured routines, visual schedules. Purpose: reduce challenging behaviors and support learning. Mechanism: reinforcement-based behavior shaping and predictability. BioMed Central

7. Special education & individualized education plans. Purpose: access to curriculum with supports. Mechanism: accommodations (AAC, aides, therapies) matched to cognitive/language profile. BioMed Central

8. Sleep hygiene program. Set bedtime routines, light and noise control. Purpose: improve sleep fragmentation common in neurodevelopmental disorders. Mechanism: circadian and behavioral anchors. BioMed Central

9. Vision care & strabismus management. Early ophthalmology input; patching, glasses; surgery if needed. Purpose: prevent amblyopia and improve alignment. Mechanism: correct refractive error and align visual axes. Orpha

10. Cardiology surveillance. Echocardiogram at diagnosis and per findings. Purpose: detect treatable congenital heart defects. Mechanism: structured monitoring for septal defects/ductus issues. Orpha

11. Gastro-nutrition program. High-calorie, small frequent meals; fiber and fluids for constipation; dietitian guidance. Purpose: adequate growth and comfort. Mechanism: tailored macronutrients and bowel regimen. BioMed Central

12. Dental care with reflux precautions. Frequent dental checks. Purpose: protect enamel damaged by acid and feeding issues. Mechanism: fluoride, hygiene, reflux control. BioMed Central

13. Airway/anesthesia planning. Share diagnosis before procedures; careful airway assessment reported in ARTHS case experience. Purpose: safe sedation/intubation. Mechanism: anticipatory planning for craniofacial/airway nuances. SpringerLink

14. Constipation program without drugs (first line). Toileting routines, hydration, prune/pear. Purpose: soften stools and reduce pain. Mechanism: osmotic effect of sorbitol-rich juices and fiber. BioMed Central

15. Physiatry seating/orthotics. Ankle-foot orthoses, supportive seating. Purpose: posture, energy conservation. Mechanism: external support to improve biomechanics. BioMed Central

16. Hearing checks & ENT care. Tympanometry/audiology; consider tubes if recurrent otitis. Purpose: protect language development. Mechanism: reduces conductive loss from effusions. BioMed Central

17. Social work & family support. Benefits navigation, respite. Purpose: reduce caregiver strain and improve adherence. Mechanism: coordinated care and resources. BioMed Central

18. Community-based early intervention programs. Government or NGO services for children with delays. Purpose: timely access to therapy. Mechanism: standardized developmental models. BioMed Central

19. Regular immunizations (per ACIP/CDC). Purpose: prevent severe infections that worsen outcomes. Mechanism: active immunity per national schedule. CDC+1

20. Care coordination clinic (neurogenetics). Centralized follow-up with genetics, neuro, GI, PT/OT/SLP. Purpose: reduce fragmented care. Mechanism: multidisciplinary review and shared plans. BioMed Central

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Drug treatments

Important: None of these medicines is approved to treat ARTHS itself. They are standard FDA-approved drugs used to treat specific symptoms (for example, seizures, reflux, asthma, constipation, behavior). Doses, timing (“Time”), and suitability must be individualized by a clinician who knows the patient.

Seizures (if present, individualized choice):

1. Levetiracetam (Keppra). Class: antiepileptic. Typical pediatric oral dose: often initiated ~10 mg/kg twice daily and titrated (label provides ranges per indication). Time: divided doses. Purpose: reduce focal or generalized seizures. Mechanism: binds SV2A; modulates neurotransmitter release. Side effects: somnolence, irritability, mood changes; dose adjust in renal impairment. (See oral, IV, and XR labels.) FDA Access Data+3FDA Access Data+3FDA Access Data+3

Gastroesophageal reflux & acid injury:

2. Omeprazole (Prilosec). Class: PPI. Dose: per age/weight and indication; give before meals. Time: once daily (sometimes bid). Purpose: reduce acid, heal esophagitis, ease reflux pain. Mechanism: blocks gastric H+/K+-ATPase. Side effects: headache, rare hypomagnesemia; long-term risks require clinician monitoring. FDA Access Data+2FDA Access Data+2

Constipation:

3. Polyethylene glycol 3350 (PEG 3350, MiraLAX or generics). Class: osmotic laxative. Dose: individualized (commonly 0.4–0.8 g/kg/day pediatric; follow label/clinician). Time: once daily; titrate to soft stool. Purpose: soften stools and ease passage. Mechanism: osmotically holds water in stool. Side effects: bloating, diarrhea if excessive. FDA Access Data+1

Lower airway reactivity/wheezing (if present):

4. Albuterol (salbutamol) inhalation. Class: short-acting β2-agonist. Dose: by device and age per label. Time: as-needed for wheeze/bronchospasm. Purpose: relieve bronchospasm. Mechanism: β2-mediated bronchodilation. Side effects: tremor, tachycardia. FDA Access Data+2FDA Access Data+2

Spasticity or severe tone issues (subset of patients):

5. Baclofen (oral). Class: GABA-B agonist antispasmodic. Dose: low start, gradual titration. Time: divided doses. Purpose: reduce spasticity that limits function. Mechanism: inhibits excitatory neurotransmission in spinal cord. Side effects: sedation; abrupt withdrawal risks—taper slowly. FDA Access Data+2FDA Access Data+2

Irritability with autism spectrum features (some patients):

6. Risperidone. Class: atypical antipsychotic. Pediatric label: approved for irritability in autistic disorder (dosing by weight). Time: once or twice daily. Purpose: reduce severe aggression/irritability interfering with care. Mechanism: dopamine/serotonin receptor effects. Side effects: weight gain, metabolic changes, EPS—monitor carefully. FDA Access Data+2FDA Access Data+2

Nausea/vomiting with procedures or GI flares:

7. Ondansetron. Class: 5-HT3 antagonist antiemetic. Dose: age/weight per label. Time: 30 minutes before procedure or as prescribed. Purpose: reduce vomiting that worsens feeding and hydration. Mechanism: blocks vagal and central 5-HT3 receptors. Side effects: constipation, QT prolongation risk. FDA Label Search

Allergic airway/ENT symptoms (if present):

8. Montelukast. Class: leukotriene receptor antagonist. Dose: once daily by age (chewables or granules). Purpose: adjunct for allergic rhinitis/asthma phenotypes. Mechanism: blocks CysLT1 receptor. Side effects: neuropsychiatric warnings—discuss risk/benefit. FDA Label Search

Acid-related dental enamel protection adjunct (when indicated by clinician):

9. Sodium fluoride varnish/topical (dental product labeling varies). Purpose/Mechanism: strengthens enamel against acid from reflux. Side effects: dental professional-guided use. (Use local product labeling.) BioMed Central

RSV prophylaxis in high-risk infants (select cases by criteria, not ARTHS per se):

10. Palivizumab (Synagis). Class: monoclonal antibody to RSV F protein. Dose: seasonal monthly IM per label in high-risk infants. Purpose: reduce severe RSV disease in eligible high-risk groups. Mechanism: neutralizes RSV. Side effects: injection site reactions; use only if the child meets label criteria. FDA Access Data+1

Notes: Your clinician may also consider other standard medicines for specific, diagnosed problems (e.g., acid suppression alternatives, stool softeners, inhaled steroids for persistent asthma, or other antiseizure medicines) using FDA labels as guidance. These are not ARTHS-specific treatments. National Organization for Rare Disorders

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Dietary molecular supplements

Supplements are not disease-specific treatments for ARTHS. Use only if a deficiency or a clear indication exists, with professional guidance.

1. Vitamin D. Long description: Supports bone health and immune function; deficiency can worsen hypotonia and growth. Dosage: per age/serum 25-OH-D (avoid excess). Function: calcium absorption, bone mineralization. Mechanism: binds nuclear VDR, regulates calcium/phosphate genes. Office of Dietary Supplements

2. Omega-3 (EPA/DHA). Long description: May support general health; mixed evidence for neurodevelopment; useful if dietary intake is low. Dosage: per product and clinician; monitor for GI upset/bleeding risk. Function: membrane fluidity, anti-inflammatory signaling. Mechanism: eicosanoid/SREBP pathways. Office of Dietary Supplements

3. Iron (if deficient). Long description: Correcting iron deficiency supports cognition and energy; only if labs show deficiency. Dosage: mg/kg elemental iron under supervision. Function: hemoglobin/myoglobin synthesis. Mechanism: restores oxygen transport and enzymatic functions. Office of Dietary Supplements

4. Probiotics (selected strains). Long description: May help functional constipation or antibiotic-associated diarrhea; evidence varies by strain. Dosage: follow product/strain data. Function: gut microbiome modulation. Mechanism: colonization resistance and SCFA effects. Office of Dietary Supplements

5. Calcium (if dietary intake is low). Long description: Bone support with or without vitamin D; avoid excess and interactions. Dosage: age-appropriate total intake targets. Function: bone mineral, neuromuscular function. Mechanism: replenishes mineral substrate. Office of Dietary Supplements

6. Multivitamin (dietary gaps only). Long description: Insurance against selective eating; not a therapy for ARTHS. Dosage: pediatric daily value. Function: micronutrient sufficiency. Mechanism: addresses mild insufficiency across vitamins/minerals. Office of Dietary Supplements

7. Fiber supplements (e.g., inulin/psyllium). Long description: Add bulk and improve stool consistency when diet alone is insufficient. Dosage: start low and titrate to tolerance. Function: stool bulking, microbiome fermentation. Mechanism: increases water content and SCFA production. Office of Dietary Supplements

8. Zinc (if deficient). Long description: Supports growth, immunity, and taste; use only with documented deficiency. Dosage: age-based RDA unless treating deficiency. Function: enzyme cofactor. Mechanism: restores metalloprotein functions. Office of Dietary Supplements

9. Vitamin B12 (if deficient). Long description: Correct deficiency to support neurologic function and hematopoiesis. Dosage: per labs and clinician. Function: DNA synthesis, myelin. Mechanism: cofactor for methionine synthase and methylmalonyl-CoA mutase. Office of Dietary Supplements

10. Magnesium (constipation adjunct, if diet poor). Long description: Osmotic laxative effect at higher doses; caution in renal disease. Dosage: clinician-guided. Function: neuromuscular modulation. Mechanism: osmotic water retention in bowel; enzymatic cofactor. Office of Dietary Supplements

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Immunity-booster / regenerative / stem-cell drugs

There are no FDA-approved stem-cell or regenerative medicines for KAT6A/ARTHS. The FDA warns that many marketed “stem cell” or “exosome” therapies are unapproved and can be dangerous (infections, blindness, severe harm). Do not pursue such treatments outside regulated clinical trials. U.S. Food and Drug Administration+2U.S. Food and Drug Administration+2

1. Routine vaccines (per ACIP schedule). Dose/Timing: national schedule. Function: disease prevention. Mechanism: active immunity; protects vulnerable children from severe infections. CDC+1

2. Palivizumab (for eligible high-risk infants only; not ARTHS-specific). Dose/Timing: monthly injections during RSV season per label criteria. Function: lowers RSV hospitalization risk in qualifying infants. Mechanism: monoclonal antibody neutralizing RSV F protein. FDA Access Data

3. Immune globulin (IVIG/SCIG) only if a proven immunodeficiency is diagnosed. Dose/Timing: per product label and immunologist. Function: replaces missing antibodies to prevent infections. Mechanism: pooled IgG providing passive immunity. U.S. Food and Drug Administration+1

4. Good sleep, nutrition, and therapy intensity (non-drug “immune support”). Function/Mechanism: supports overall resilience; not a medicine. BioMed Central

5. Enrolled clinical trials (if available). Function: access to investigational approaches with oversight. Mechanism: research protocols with safety monitoring. SpringerLink

6. Avoid unapproved stem-cell clinics. Function: harm avoidance. Mechanism: follow FDA guidance and report unsafe marketing. U.S. Food and Drug Administration

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Surgeries

1. Cardiac defect repair (e.g., VSD/ASD/ductus) when present and meeting criteria. Why: prevent heart failure/pulmonary hypertension; improve feeding/growth. Procedure: patch/closure tailored to lesion. Orpha

2. Strabismus surgery for persistent ocular misalignment after conservative care. Why: optimize binocular vision and reduce amblyopia risk. Procedure: extraocular muscle recession/resection. Orpha

3. Gastrostomy tube for severe feeding failure/aspiration risk. Why: reliable nutrition and medication delivery. Procedure: PEG or surgical G-tube. BioMed Central

4. Tympanostomy tubes for chronic effusions with hearing impact. Why: improve hearing and language access. Procedure: myringotomy with ventilation tube placement. BioMed Central

5. Orchiopexy (if undescended testes, reported in some cases). Why: fertility and malignancy risk reduction. Procedure: mobilize and fix testis in scrotum. Translational Pediatrics

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Preventions

1. Keep up-to-date vaccinations (ACIP). CDC

2. Hand hygiene and illness precautions during respiratory seasons. U.S. Food and Drug Administration

3. Reflux control (meal timing, head elevation) to protect teeth and sleep. FDA Access Data

4. Constipation prevention (fluids, fiber, routine toileting). FDA Access Data

5. Regular vision and hearing checks to catch treatable problems early. Orpha

6. Dental care every 6 months; fluoride per dentist. BioMed Central

7. Sleep routine and screen-light limits before bed. BioMed Central

8. Therapy consistency (home exercise/AAC carry-over). BioMed Central

9. Anesthesia/airway alert on medical ID; share care plans before procedures. SpringerLink

10. Care coordination (single plan shared across specialists, school, therapists). BioMed Central

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When to see doctors

• Immediately: suspected seizures; aspiration/choking; dehydration from vomiting; trouble breathing; fever with lethargy; severe constipation with pain/swelling; new regression in skills. BioMed Central

• Soon (urgent appointment): poor weight gain, worsening sleep apnea/snoring, new eye crossing/drift, behavior changes impacting safety, uncontrolled reflux symptoms. BioMed Central

• Routine: genetics/neurodevelopment follow-up; annual vision/hearing; dental every 6 months; cardiology per prior findings; therapy progress reviews every 3–6 months. BioMed Central

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What to eat & what to avoid

What to eat: small, frequent, energy-dense meals; adequate protein, fruits/vegetables for fiber, whole grains, healthy fats (e.g., omega-3–rich fish as culturally appropriate); plenty of water; consider lactose-free trial only if intolerance suspected, with dietitian input. These choices support growth and bowel regularity. Office of Dietary Supplements

What to avoid/limit: foods that worsen reflux (very spicy/fatty, late-night large meals), low-fiber ultra-processed diets (can worsen constipation), and unverified supplements or “immune boosters” making cure claims. Avoid any unapproved stem-cell or exosome clinic offers. FDA Access Data+2FDA Access Data+2

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Frequently Asked Questions

1) Is ARTHS inherited?
Most cases are de novo (new in the child), but once a parent or child has a pathogenic KAT6A variant, it follows autosomal-dominant inheritance for future children. Genetic counseling is recommended. PMC

2) Will my child talk?
Speech delay is a hallmark; many children benefit from AAC plus intensive speech therapy, and some gain meaningful spoken words over time. Early, consistent therapy helps. BioMed Central

3) Are seizures common?
Seizures occur in a subset; many never have them. If they occur, standard antiseizure medicines (e.g., levetiracetam) are used, guided by neurology. BioMed Central+1

4) Are there heart problems?
Some children have congenital heart defects (e.g., septal defects). Screening echo at diagnosis is reasonable; management is standard pediatric cardiology. Orpha

5) Is there a cure?
There is no gene-targeted cure today. Care focuses on developmental therapies, symptom control, and education supports. Research on mechanisms is active. SpringerLink

6) What about stem-cell therapy ads?
Avoid them. The FDA warns most marketed “stem-cell” therapies are unapproved and risky; none are approved for ARTHS. U.S. Food and Drug Administration

7) Can nutrition help?
Nutrition supports growth and bowel health, but no diet cures ARTHS. Dietitians tailor plans for reflux and constipation. BioMed Central

8) Will school help?
Yes. Individualized education plans with AAC, therapy time, and classroom supports are key. BioMed Central

9) What is the long-term outlook?
Varies widely. Many children gain new skills through adolescence; early therapy and medical management improve function and comfort. PMC

10) How often should eyes and ears be checked?
Regularly (often yearly or sooner) because treatable strabismus, refractive error, or middle-ear fluid can silently hinder language. Orpha

11) Are sleep problems part of ARTHS?
Sleep disturbance is common in neurodevelopmental disorders; start with sleep hygiene and discuss further options with clinicians. BioMed Central

12) Can we prevent infections?
Follow ACIP/CDC immunization schedules and standard infection-control steps; consider palivizumab only if the child meets high-risk criteria. CDC+1

13) What tests confirm ARTHS?
Genetic testing (exome/genome or gene panel) showing a pathogenic KAT6A variant. PMC

14) Are there research studies to join?
Yes—basic and clinical research is active; family foundations curate updates and links to published studies. SpringerLink

15) Where can families learn more?
Reputable summaries include rare-disease databases and published reviews focused on KAT6A/ARTHS. National Organization for Rare Disorders+1

Disclaimer: Each person’s journey is unique, treatment plan, life style, food habit, hormonal condition, immune system, chronic disease condition, geological location, weather and previous medical  history is also unique. So always seek the best advice from a qualified medical professional or health care provider before trying any treatments to ensure to find out the best plan for you. This guide is for general information and educational purposes only. Regular check-ups and awareness can help to manage and prevent complications associated with these diseases conditions. If you or someone are suffering from this disease condition bookmark this website or share with someone who might find it useful! Boost your knowledge and stay ahead in your health journey. We always try to ensure that the content is regularly updated to reflect the latest medical research and treatment options. Thank you for giving your valuable time to read the article.

The article is written by Team RxHarun and reviewed by the Rx Editorial Board Members

Last Updated: October 02, 2025.

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