Introduction

Charge Syndrome is an uncommon, intricate condition which impacts many parts of the body. The acronym “Charge” is used to describe a few of the common features of the disorder, i.e. coloboma, heart defects, atresia choanae (or choanae atresia), retarded growth and mental development, genital abnormalities, and ear malformations and hearing loss. 

The CHD7 gene mutation is typically the main cause of Charge syndrome. This gene helps create a protein which plays an important role in the development of a baby and works by helping control how genes are turned on or off during the early growth stages. A mutation in the CHD7 gene disrupts normal development, especially in parts of the body formed from neural crest cells, which help to make important structures.¹

Early feeding and swallowing are essential as these functions are typically affected as a result of the physical and neurological complications associated with the syndrome, with over 90% of individuals needing artificial nutrition during their life. When feeding is successful in the first months of life, it provides adequate nutrition for the baby and supports brain growth, preventing complications such as aspiration and respiratory infections. Infants with Charge syndrome tend to have complications with sucking, swallowing and coordinating breathing, and as a result lead may lead to poor weight gain, failure to thrive and long hospital visits. Therefore, it is essential to identify and treat feeding and swallowing issues early in order to preserve the healthy growth of infants and enhance their long-term outcomes. 

Causes of feeding and swallowing difficulties in CHARGE syndrome

In infants with Charge syndrome, feeding and swallowing difficulties are complex and result from a variety of structural anomalies, neurological issues, sensory deficits and gastrointestinal issues. These difficulties can affect the infant's ability to safely and successfully take in nutrients, which are crucial in the early months of development.

Structural anomalies

In Charge Syndrome, structural anomalies in the face and upper airways are regular and can affect feeding.

• Cleft lip/palate: A cleft is a space in the roof of the mouth, upper lip, or both. While feeding, the oral and nasal cavities of newborns with a cleft lip/palate aren’t well separated. Therefore, they may be unable to feed from a bottle or breastfeed as they can’t produce a good suction with their mouth²
• Choanal atresia: This is a condition which occurs when one or both sides of the nasal channel narrow or obstruct, preventing the passage from connecting with the throat. Having a blocked nasal passage can disrupt the normal pattern infants have of sucking, swallowing and breathing³
• Cranial nerve dysfunction: Cranial nerve dysfunction is a key feature of Charge syndrome, and negatively impacts feeding and swallowing
  • Cranial Nerves IX and X - Swallowing is mediated by the Vagus nerve (X) and the glossopharyngeal nerve (IX). When these nerves are impaired, it can be difficult for the infant to feed due to reduced feeling in the throat and trouble starting the swallowing reflex, therefore can lead to milk going down the wrong way (aspiration)^4,5
  • Cranial Nerve VII: Impairment of the facial nerve can lead to facial asymmetry or weakness. This may affect feeding since it can lead to drooling on the afflicted side and have trouble retaining food in the mouth³

Neurological issues

Additional factors which can lead to feeding difficulty include neurological problems in Charge syndrome

• Hypotonia: Infants with hypotonia can have trouble sucking for extended periods of time during feedings due to their weak muscular tone, which can result in insufficient intake of nutrients⁶
• Impaired coordination of sucking, swallowing, and breathing: Choking, aspiration, and refusal to feed entirely can occur when neurological conditions make it hard to coordinate these actions⁷

Sensory deficits

Deficits in senses can affect interaction and feeding readiness.

• Reduced sense of smell (anosmia): A newborn's enjoyment of feeding and hunger stimulation is considerably influenced by smell. Anosmia may make feeding less appealing and therefore may make your baby less responsive to food³

Gastrointestinal issues

Infants with Charge syndrome frequently experience digestive problems, which may affect their feeding abilities

• Gastroesophageal reflux (GERD): This is when acid from the stomach leaks into the oesophagus. This can cause discomfort and pain. Reflux may also increase the risk of aspiration, especially in infants who already have impaired swallowing mechanisms^3,8

Signs and symptoms

Charge syndrome has 4 major features: 

• Coloboma
• Choanal atresia
• Characteristic ear abnormalities 
• Cranial nerve dysfunction 

There are other minor symptoms also common to Charge syndrome: 

• Heart defects 
• retardation /delay of growth 
• Cleft lip/palate
• Distinctive physical features (arched eyebrows, flattened cheekbones, prominent forehead, occasional droopy eyelids etc.)³

Assessment and diagnosis

A multidisciplinary approach is necessary for precise diagnosis and evaluation of Charge syndrome. Because of how intricate the syndrome is, early detection and thorough assessment by a group of experts is essential for maximising results and ensuring the baby gets the nutrients they need. An infant which exhibits all four major features (Coloboma, Choanal atresia, ear abnormalities and cranial nerve dysfunction) or three major features and at least 3 minor features, are diagnosed with Charge syndrome.

Multidisciplinary approach

Diagnosing and evaluating Charge syndrome involves collaboration between several healthcare professionals:

• Paediatrician: acting as the main doctor overseeing the infant’s care, they notice early signs like trouble feeding, slow weight gain, or delayed growth (some common signs in Charge syndrome) and refer the baby to other specialists for further help
• Speech-language pathologist (SLP): This is a professional who observes how well the baby moves their mouth and throat muscles to eat and swallow safely. To avoid situations like aspiration or choking, the SLP may conduct feeding assessments and offer guidance on how to make feeding simpler and safer
• Occupational therapist (OT): An occupational therapist checks how the baby handles different textures, checks the baby’s movement during feeding, and observes their body positioning and energy levels. The OT can help improve the comfort and the ability to feed, and can give tips to caregivers
• ENT specialist (Ear, Nose, and Throat doctor): An ENT expert will examine the infant's airway, nose and throat for any obstructions or structural difficulties such as atresia choanae, or problems with the nerves which regulate swallowing, which may be making feeding challenging

Feeding evaluation

One of the most obvious symptoms of Charge syndrome in babies is difficulty feeding. To determine the source of these issues and make sure that the baby can feed securely and successfully, a thorough feeding evaluation is necessary. It can also help guide early intervention and support the broader diagnostic process.

• Clinical feeding observation: During a clinical feeding observation, a speech and language pathologist (SLP) or occupational therapist will watch how the baby eats and swallows in a natural setting. During this observation, they assess:
  • The baby’s suck, swallow, breathe coordination 
  • Signs of distress, choking or aspiration
  • Efficiency while feeding 
  • The baby’s oral motor control
  • Responses to different positions^8,9,10
• Videofluoroscopic swallow study (VFSS): Also known as a modified barium swallow study, the VFSS is an exam to allow specialists to see what happens in the baby’s mouth when they swallow. This typically involves a radiologist, who will be able to see if the baby is swallowing food safely or if milk is going into their airway¹¹
• Fiberoptic Endoscopic Evaluation of Swallowing (FEES): This is another assessment to assess swallowing in infants, and involves inserting a thin, flexible camera (endoscope) through the infant’s nose to view their throat during feeding. This is a useful test for when VFSS is not available or when repeated evaluations are required without repeated exposure to radiation¹²

Medical imaging and tests

Medical imaging and genetic testing are crucial to confirm structural abnormalities, support early diagnosis and guide medical management

• Imaging to confirm structural abnormalities: imaging allows to identification of structural abnormalities commonly seen in Charge syndrome, such as detecting ear malformations, identifying cranial nerve and brain anomalies and checking for congenital heart defects
• Genetic testing: DNA testing can confirm a diagnosis of Charge syndrome, identifying changes to the CDH7 gene. Genetic testing can then guide genetic counselling for parents with affected babies³

Management and interventions

For infants with feeding and swallowing difficulties with Charge syndrome, it is important that early coordinated and individualised management is put in place for optimum growth of the baby. 

• Feeding support: special tools and strategies can support safer and more efficient feeding
  • Special nipples or bottles: specialised bottles can help regulate flow and enable infants with a weak suck to feed more successfully 
  • Thickened feeds: thickening liquids can help slow down the flow. This lowers the danger of aspiration and makes it simpler and safer for babies
  • Positioning techniques to improve swallowing safety: Improved swallowing safety and fewer choking episodes can be achieved by helping parents position their heads and bodies correctly during feeding⁸
    
• Alternative feeding methods: Occasionally, alternative techniques can be employed to guarantee adequate nutrition and growth in cases where oral feeding is unsafe or if the baby is not getting enough nutrients.

This may involve inserting a:

• Nasogastric (NG) tube
• Gastrostomy (G-tube) for long-term feeding¹³
  
• Medical and surgical management: The underlying causes of eating issues may require medical and surgical intervention
  • Medication for reflux: to lessen acid and protect the oesophagus, doctors may prescribe medication to babies who have gastroesophageal reflux
  • Surgery: procedures may be required to correct structural problems, such as choanal atresia or cleft palate

Education and support for parents

Caring for an infant with Charge syndrome can be very demanding. This is especially the case when feeding and medical difficulties are present since birth. For parents to feel less alone and more secure in their ability to care for their child, emotional support and counselling services are essential.

Prognosis and prospects for the future

Many newborns’ feeding and swallowing abilities improve significantly with early intervention and continued therapy. However, this depends on how severe the infant’s syndrome is, as some may need long-term feeding assistance. Early intervention can improve a child’s quality of life and improve developmental outcomes.

Summary

• Charge syndrome is a rare genetic condition involving the CHD7 gene, and affects multiple systems, as a result leading to feeding and swallowing difficulties
• These feeding difficulties arise from structural, neurological, sensory and gastrointestinal issues
• Diagnosis involves feeding evaluations, such as VFSS/FEES, and confirmation through genetic testing 
• Management involves specialised feeding tools, therapy, alternative feeding methods and in severe cases, surgical intervention
• Parental support includes guidance on safe feeding techniques and access to emotional support