Introduction 

Definition of Ablepharon-Macrostomia Syndrome (AMS)

Ablepharon-Macrostomia Syndrome (AMS) is a genetic disorder that occurs in rare cases, it may also be described as a real malformation syndrome that is characterized by ablepharon ( a state of absence of the eyelids) or microblepharon ( a situation in which the eyelids are underdeveloped) and macrosomia (having a wide mouth).AMS majorly affects areas such as the face and skin, causing low-set ears, syndactyly (joining of two or more fingers or toes), and growth delays. AMS is caused when changes occur with the TWIST2 gene, which is inherited as an autosomal dominant form of inheritance.¹

Importance of addressing feeding and nutritional challenges

Ablepharon-Macrostomia Syndrome (AMS) as we now know is linked to abnormalities that affect both the mouth and face and as such, children with this syndrome may have wide mouths and difficulties sucking and swallowing. Therefore, it is important to address the feeding and nutritional challenges associated with AMS because certain health issues in the baby such as inadequate nutrition or malnutrition, delay in the growth of the child, and developmental issues may arise as well, further worsening the child’s health. There is a need for proper nutritional support to make sure that the child has healthy growth and development, reduces the risk of aspiration, and improves the overall quality of life. When there is an early intervention using feeding therapies and nutritional guidance for children with AMS, the health outcomes are beneficial.^1,2

Overview of feeding difficulties

Structural anomalies

1.  Absence or underdevelopment of eyelids: Usually, In Ablepharon-Macrostomia Syndrome (AMS), there is absence or partial development of eyelids also referred to as ablepharon or microblepharon, this can cause serious ocular complications. The eyelids protect the eyes, therefore when it is absent there is an increased risk of the corneal being exposed and damaged, these then result in certain conditions such as keratopathy and potential visual impairment. This absence and the resulting complications further make feeding difficult in infants as they tend to struggle with their eyes closed during sucking, increasing the risk of aspiration and feeding difficulties due to poor coordination of sucking and swallowing mechanisms¹
2. Wide mouth and potential palate abnormalities: The wide mouth is called macrostomia and it is associated with AMS, it can create challenges in achieving a proper seal for feeding as the baby’s mouth may not properly curve around the breast nipples for feeding, therefore, complicating breastfeeding or even bottle-feeding. Additionally, potential palate abnormalities may further increase feeding difficulties, leading to inadequate nutrition and growth delays. These structural anomalies demand careful management to ensure adequate caloric intake and prevent aspiration, which can have serious health implications for affected infants²

Functional challenges

1.  Sucking and latching difficulties: One of the striking features of Ablepharon-Macrostomia Syndrome (AMS), is having a wide mouth; this prevents them from sucking and latching during feeding from the mother's breast or the feeding bottle effectively. Their inability to properly seal their mouth around the food source can lead to inadequate milk intake by the child, resulting in poor nutrition and potential growth delays. Additionally, since the eyelids are either absent or underdeveloped it can affect the infant's ability to focus during sucking, further complicating feeding efforts^1,3
2. Chewing and biting problems: As children with AMS grow, they may experience chewing and biting difficulties which is due to the structural anomalies associated with AMS. The wide mouth and potential palate abnormalities may affect the alignment of teeth and the overall oral cavity, making it hard to chew food properly. This can result in nutritional deficiencies and may increase the risk of choking on food^2,3

Associated conditions

1. Muscle weakness (hypotonia): Hypotonia is also referred to as muscle weakness, it is a common feature of Ablepharon-Macrostomia Syndrome (AMS) and can noticeably impact feeding in affected individuals. Infants with hypotonia may find it hard to coordinate the muscle movements needed for sucking and swallowing, causing difficulties in feeding. This can result in inadequate caloric intake, growth delays, and increased risk of aspiration. It is important that interventions be designed to address these challenges and ensure proper nutrition and safety during feeding^2,4
2.  Gastroesophageal reflux: Gastroesophageal reflux (GER) is a condition that may be frequently observed in children with AMS. The structural anomalies associated with AMS can cause reflux issues by altering normal anatomy and function of the oesophageal sphincter thereby allowing stomach contents to return back to the esophagus. GER can further worsen feeding difficulties by causing discomfort during and after feeding, leading to a strong dislike to feed and further promoting nutritional challenges. Management of GER is crucial to improve feeding tolerance and overall nutritional status in affected individuals^1,5

Nutritional management strategies

The nutritional management of infants with Ablepharon-Macrostomia Syndrome should be developed and designed such that all health practitioners get involved due to the nature of this genetic disorder. By addressing the unique challenges faced by these infants and providing comprehensive support, the multidisciplinary team can help ensure healthy growth, development, and quality of life.

Multidisciplinary approach

1. Involvement of paediatricians, nutritionists, and therapists: Infants with Ablepharon-Macrostomia Syndrome (AMS) due to their structure and associated anomalies that have affected them, tend to find feeding difficult; as such multidisciplinary teams are required to create a proper approach to manage these complex nutritional needs. Pediatricians take charge of the overall medical care, monitor growth and development, and manage any associated conditions. Nutritionists in their roles should develop individualized feeding plans, ensure adequate caloric intake, and monitor these infants for nutritional deficiencies. Therapists should provide specialised feeding therapy, and assist with the transition to oral feeding. Optometrists to help in assessing both virtual and ocular health. Continuous communication and collaboration among these different health teams are essential for optimising the infant's nutritional status and overall well-being⁶
2. Importance of coordinated care: Coordinated care is ideal for infants with AMS, as it ensures consistent management strategies, reduces the risk of complications, and provides comprehensive support for the child and family. The healthcare teams should work together to develop a well-structured care plan, set goals, and monitor progress. Regular team meetings and communication help to identify and address any feeding or nutritional challenges on time and target them early. Coordinated care also involves educating and supporting the family, providing resources, and facilitating access to necessary services

Feeding techniques and tools

1.  Specialised bottles and nipples: Due to the wide mouth and potential feeding difficulties associated with infants with Ablepharon-Macrostomia syndrome, specialised bottles and nipples may be needed to facilitate feeding. These may include bottles with a larger nipple opening or bottles designed for cleft palate feeding. Therapists can assist in selecting appropriate feeding equipment based on the infant's specific needs and preferences
2. Positioning and feeding techniques: Proper positioning and feeding techniques are essential for infants with AMS to ensure safe and effective feeding. Positioning them in an upright or semi-upright manner can help reduce the risk of aspiration and improve swallowing. Paced bottle feeding should be used, where the flow of milk is controlled and the infant is given breaks to breathe, which can help prevent overfeeding and fatigue. Therapists can provide guidance on appropriate positioning and feeding techniques based on the infant's individual needs and progress

Tube feeding

1. Indications for nasogastric or gastrostomy tubes: In some cases which depend on the situation of the infants and the best way the medical team sees appropriate, infants with AMS may require tube feeding to ensure adequate nutrition and prevent complications. Nasogastric tubes may be used for short-term feeding support, while gastrostomy tubes may be indicated for long-term feeding needs or if the infant is unable to tolerate oral feeding⁷
2. Transitioning from tube feeding to oral feeding: When the infant with AMS shows improved abilities in their oral feeding skills, the transition from tube feeding to oral feeding can begin. This process is gradual and individualised, it takes into account the infant's developmental stage, feeding skills, and overall health. Therapists work closely with the family to develop a plan for transitioning, which may involve gradually increasing oral feeding while maintaining tube feeding support. There should be regular assessment of feeding skills and progress. It helps in guiding the transition process, ensuring a safe and successful outcome⁸

FAQs

Can Ablepharon-Macrostomia syndrome be completely cured?

For now, this is a complicated genetic disorder but can be managed by health experts to improve their quality of life and their overall health outcomes. 

How common is Ablepharon-Macrostomia syndrome? 

This syndrome is extremely rare and less than 1000 living in the U.S. have this disorder.

What causes Ablepharon-Macrostomia syndrome?

It is caused when changes occur in the DNA, that is, a mutation in the TWIST2 genes.

Summary 

For newborns with Ablepharon-Macrostomia Syndrome, the use of high-calorie, such as speciality formulas and supplements designed for them by nutritionists in conjunction with focused oral motor therapy is crucial in addressing their nutritional needs. This diverse strategy contributes to better overall outcomes, fewer problems, and enough growth in this population.