Weight Loss with Kabuki Syndrome in South Africa

Kabuki Syndrome is a rare genetic condition that affects growth, intellectual development, and a wide range of organ systems. If your child or a family member has been diagnosed, you've likely already navigated a maze of specialists and therapies. Weight management is a real challenge in Kabuki Syndrome — but understanding why it happens and what actually works can make a meaningful difference in quality of life.

What Is Kabuki Syndrome?

Kabuki Syndrome (also called Niikawa-Kuroki Syndrome) is caused by mutations in genes responsible for histone modification — the chemical "tagging" system that controls which genes get switched on or off. Two genes are involved:

• KMT2D (also written MLL4): Responsible for about 75% of cases — Kabuki Type 1
• KDM6A: Responsible for about 5% of cases — Kabuki Type 2, X-linked, tends to be milder in females
• About 20% of individuals with a clinical diagnosis of Kabuki have no currently identifiable mutation

Classic features include:

• Distinctive facial features: Arched, laterally sparse eyebrows; long palpebral fissures (wide eyes); broad nasal tip; large or prominent ears; persistent fingertip pads
• Intellectual disability: Mild to moderate in most cases
• Growth retardation: Short stature common; postnatal growth failure
• Hypotonia: Low muscle tone — often from birth, improving with age
• Skeletal abnormalities: Brachydactyly (short fingers), scoliosis, joint hypermobility
• Congenital heart defects in 30–50%: VSD, ASD, coarctation of the aorta
• Feeding difficulties in infancy: Poor latch, dysphagia, gastro-oesophageal reflux (GORD)
• Obesity — develops in many children and adolescents with Kabuki Syndrome
• Sensory processing issues: Food texture aversions, sensory-seeking behaviours around food
• Seizures in a subset of patients

In South Africa, diagnosis is primarily clinical (based on physical features) with confirmation via gene panel testing through NHLS or private laboratories. The rare disease community is small — connect with the Kabuki Syndrome Network (international) for the latest guidance.

Why Does Weight Gain Happen in Kabuki Syndrome?

Obesity in Kabuki Syndrome isn't simply a matter of overeating. Multiple biological and behavioural factors contribute:

• Hypotonia: Low muscle tone reduces resting metabolic rate (muscles burn calories even at rest). Less muscle mass = fewer calories burned overall.
• Reduced physical activity: Motor delays, joint hypermobility, and fatigue limit spontaneous movement and structured exercise.
• Growth hormone deficiency: GH deficiency (present in a subset) shifts body composition toward fat accumulation.
• Hyperphagia tendencies: Some individuals with Kabuki show increased appetite and food-seeking behaviour, possibly related to the disrupted histone regulation of appetite genes.
• Sensory-driven food choices: Food texture aversions can result in a narrow, often carbohydrate-heavy diet (soft, beige foods that are easy to eat).
• Medication effects: Anticonvulsants (valproate, carbamazepine) are significant weight-gainers in those with seizures.
• Sleep-disordered breathing: Obstructive sleep apnoea is common in Kabuki — poor sleep quality drives cortisol elevation and appetite dysregulation.

Cardiac Clearance for Exercise

Given the 30–50% prevalence of congenital heart defects, cardiac evaluation is mandatory before beginning any formal exercise programme:

• Ask your cardiologist whether the heart defect has been repaired and what the current functional status is
• Request an echocardiogram if one hasn't been done recently
• If cardiac disease is absent or repaired without residual defect, most exercise is safe

Exercise for Kabuki Syndrome

Exercise is especially important in Kabuki Syndrome because improving muscle tone directly counteracts the metabolic slowdown from hypotonia. The goal is to build habit, enjoyment, and function — not athletic performance.

For Children

• Physiotherapy: Essential for building muscle tone, improving gait, and developing motor skills. Should start early and continue through adolescence.
• Swimming: Exceptional for Kabuki — warm water reduces hypotonia, supports weak joints, and makes movement enjoyable for sensory-sensitive children. Many municipalities have subsidised hydrotherapy pools.
• Trampoline play: Sensory enjoyable and excellent for core muscle activation — supervised only.
• Cycling with balance support: Adapted trikes or balance bikes build leg strength without the fall risk of standard bikes.
• Dance and movement classes: Inclusive dance programmes (many run by OTs and physios) combine sensory input with aerobic activity.

For Teenagers and Adults

• Walking — daily, with a consistent route. Start with 15–20 minutes; build to 30–45 minutes. Music or a companion helps with motivation.
• Aqua aerobics: Group-based, low-impact, and social — excellent for adults with intellectual disability who benefit from structured group activities.
• Resistance training with support: Light resistance bands or machine weights (not free weights) in a supervised gym setting. Focus on functional strength: squats, leg press, seated rows.
• Avoid: Excessive joint loading (risk of injury with hypermobility) — get a physiotherapist's opinion on safe range of motion for your specific joint laxity.

Diet Strategies for Kabuki Syndrome

Address Sensory Food Aversions

Many individuals with Kabuki have sensory processing difficulties around food — specific textures, temperatures, or smells trigger refusal. This often leads to a narrow diet dominated by soft, processed carbohydrates (white bread, chips, biscuits). Working with an Occupational Therapist (OT) trained in feeding therapy can systematically expand the accepted food range over months.

In the meantime, work with what's accepted and improve the nutritional quality of preferred foods:

• Smooth peanut butter on whole-wheat bread instead of white bread with jam
• Maize meal porridge fortified with full-cream milk powder or protein powder
• Blended vegetable soups (butternut, carrot, sweet potato) disguised in preferred textures
• Yoghurt mixed with pureed fruit instead of flavoured puddings

Reduce Refined Carbohydrates

With hypotonia-related insulin sensitivity issues and the tendency toward carbohydrate-heavy diets:

• Swap white bread for whole-wheat or seeded bread
• Replace sweetened cereals with unsweetened oats or Weetbix
• Offer water or diluted rooibos tea instead of fruit juice or cold drinks
• Limit biscuits, chips, and sweets to occasional treats — not daily staples

Prioritise Protein

To support muscle building and satiety, aim for protein at every meal:

• Eggs in any preparation your child will accept (scrambled, hard-boiled, in fried rice)
• Amasi (maas) — a South African staple that many children with texture sensitivity will accept because it's smooth and mildly sour
• Smooth peanut butter, almond butter
• Minced meat in soft stews (easy to chew and swallow)
• Smooth lentil dal or soup

Manage GORD (Reflux)

Gastro-oesophageal reflux is common in Kabuki and can make mealtimes uncomfortable, leading to food refusal:

• Smaller, more frequent meals
• Keep upright for 30 minutes after eating
• Avoid acidic foods (citrus, tomato-based sauces) if they worsen reflux
• Discuss PPI therapy (omeprazole, lansoprazole) with your paediatrician

Medications That Cause Weight Gain

• Valproate (Epilim): One of the most significant weight-gainers in children and adults with epilepsy. If weight gain is severe, discuss alternatives (lamotrigine, levetiracetam) with your neurologist.
• Carbamazepine (Tegretol): Moderate weight gain potential
• Growth hormone therapy: If GH deficiency is confirmed and GH is started, expect improved body composition — reduced fat, improved lean mass — over 12–18 months

Never stop anticonvulsants without specialist guidance — seizure risk must be weighed against weight gain concerns.

Sleep Apnoea and Weight

Obstructive sleep apnoea (OSA) is common in Kabuki due to hypotonia of the upper airway, midface abnormalities, and obesity. OSA worsens weight gain by:

• Elevating cortisol (stress hormone that promotes fat storage)
• Increasing appetite hormones (ghrelin) and reducing satiety hormones (leptin)
• Causing daytime fatigue that limits activity

If your child snores loudly, gasps during sleep, or is excessively sleepy during the day, request a sleep study (polysomnography). CPAP or adenotonsillectomy can be transformative for both sleep quality and weight trajectory.

Finding Help in South Africa

• Medical genetics: For diagnosis confirmation and ongoing management — Wits Genetics Clinic, Stellenbosch Tygerberg, UKZN McCord's
• Paediatric dietitian: Essential for managing feeding difficulties and weight — adsa.org.za
• Occupational Therapist: For sensory feeding therapy — OTASA (otasa.org.za)
• Physiotherapist: For hypotonia and motor development — SASP (sasp.co.za)
• Speech-Language Therapist: For dysphagia and oral motor skills — SASLHA (saslha.co.za)
• Neurologist / epileptologist: If seizures are present
• Support network: Kabuki Syndrome Network (international, online) — kabukisyndrome.com

Key Takeaways

• Obesity in Kabuki Syndrome has multiple biological roots — hypotonia, GH deficiency, food selectivity, medication effects, and sleep apnoea
• Cardiac clearance before exercise if heart defects are present
• Swimming and physiotherapy-guided exercise are the highest-yield interventions
• OT feeding therapy can systematically expand a narrow diet over time
• Valproate causes significant weight gain — discuss alternatives with your neurologist if obesity is severe
• Investigate and treat sleep apnoea — it's a major driver of weight gain that's often missed
• Build the team: dietitian + OT + physio + paediatrician working together