Introduction 

How does a disorder as rare as De Barsy Syndrome impact a child’s ability to grow, learn and thrive? Genetic disorders are described as when a mutation affects an individual’s genes or when they have the wrong amount of genetic material.¹ For a condition or disease to be considered rare, it must affect fewer than 1 in 2000 people within the general population. Currently, there are 6000 known rare disorders, one of them being De Barsy Syndrome (DBS).² De Barsy syndrome is described as a rare disorder identified by eye abnormalities, developmental delay, intellectual disability, a prematurely aged appearance and loose skin that lacks elasticity.³ As this syndrome affects someone’s intellectual and developmental growth, it is important to address delays or disabilities early on in order to maximise development potential and improve outcomes.^3,4 As well as parents and families having access to special education and social care.⁵ This article will make a deep dive into developmental delay and intellectual disability in children with De Barsy Syndrome, as well as highlight the importance of focusing on developmental delay and intellectual disability.

Understanding de barsy syndrome 

De Barsy Syndrome is an Autosomal recessive disorder (ARD). An ARD is when a child requires a single copy of a mutated gene from one parent to cause a specific disorder, such as De Barsy Syndrome.⁶ Mutated genes such as ALDH18A1 or PYCR1 have previously been linked with DBS in a few cases; however, there is no concrete evidence linking a specific gene to the syndrome. The common occurrence of the disease is unknown, but according to the National Organisation for Rare Disorders (NORDs), it was reported that there are fewer than 50 cases in the world literature to date. This makes DBS a highly uncommon genetic disorder.⁷

There are clinical features that tie to DBS, such as eye abnormalities, developmental delays, intellectual disability, a prematurely aged look and loose, sagging skin that lacks elasticity; this is called Cutis Laxa.  Sometimes the skin may appear thin and translucent, which makes the veins under the skin very visible. There are also distinctive facial features, skeletal malformations and neurological abnormalities that can also occur.³

For facial features, a child may have:

• Prominent forehead
• Thin lips
• Widely spaced eyes
• A small upturned nose
• Large malformed ears³

For skeletal malformations, a child may have:

• Diminished muscle tone
• Abnormally loose joints
• Frequent dislocations/partial dislocations
• Fragile bones
• Dislocated hips and hands stuck in a clenched position³

 For neurological abnormalities:

• Cataracts
• Bilateral corneal opacification
• Blue sclera
• Near-sightedness
• Cross-eyed³

What do “developmental delay” and “intellectual disability” mean? 

Developmental delay

A developmental delay is when a child doesn’t meet more than one developmental milestone by a certain age compared to other children. There are four different milestones that babies and children fall into. This includes social and emotional milestones, language and communication milestones, cognitive milestones and motor milestones.^8,9

Children have many milestones, such as in playing, learning, speaking, behaving and moving. Each child develops and reaches these milestones at different rates, so if a child is a little behind, that doesn’t mean they have a developmental delay. However, if they are continuously behind in development at a certain age, then they may have a developmental delay.⁸

Examples of this would be that a child may have trouble following directions or solving problems. For social and emotional skills, they may struggle with understanding social cues or having conversations. For speech and language skills, a child may find it difficult to understand what people say. In addition, for fine and gross motor skills, a child may have trouble holding an object or walking.⁸

Intellectual disability

An intellectual disability is a condition that hinders a person’s mental abilities, which affects intelligence, learning and everyday life skills. The severity varies, as some people may have minor effects but still live independently; however, people with severe effects may need lifelong assistance.¹⁰

Intellectual-related symptoms include:

• Delayed or slow learning
• Slowed reading speed
• Difficulties with reasoning and logic
• Difficulties in judgement and critical thinking¹⁰

How de barsy syndrome affects development

Children with De Barsy Syndrome may experience delays in reaching development milestones caused by growth delays such as intrauterine and postnatal growth deficiency before and after birth.³

Children with DBS may struggle with their motor development. For example, infants may have decreased muscle tone and looseness in the joints due to lax ligaments and tendons. This may cause a delay in acquiring specific fine and gross motor skills, such as balancing when walking and getting into a sitting position. Children with hypotonia may also have trouble feeding if they are unable to chew for long periods.^8,11

Speech and communication can be affected, such as having difficulties understanding what is being said, difficulties expressing thoughts, feelings and emotions to others, difficulties socialising with others and creating meaningful friendships and relationships with peers and family. Speech, language and communication skills are vital to the development of a child, academically and socially.¹²

Cognitive development, which refers to the condition of children whose intellectual function and adaptive behaviour are significantly below the expected average for their age, can show signs such as trouble understanding social rules and trouble thinking logically. In addition, many may have short attention spans and can cross over to having difficulties speaking.¹³

Additionally, children with developmental delays may face problems related to keeping up with their personal hygiene or difficulties when toileting, dressing and feeding.¹⁴

Intellectual disability in de barsy syndrome

Children with De Barsy Syndrome may develop an intellectual disability, which can range from moderate to severe. These effects can vary from child to child. Some children may experience minor effects, but some live independent lives. However, others may have severe effects, which means they may need lifelong assistance.³

• Mild to moderate Intellectual disability:

The majority of people with an Intellectual disability are classified as having mild intellectual disabilities. They are slower in all areas of conceptual development and social daily lives; however, these children are able to learn practical life skills, which in turn allows them to function in life with minimal support.¹⁵

• Severe Intellectual disability:

Severe intellectual disabilities manifest as major developmental issues, and individuals often have the ability to understand speech; however have limited communication skills. Children with severe ID will need supervision in social settings and often need family support to live in supervised settings such as a group home.¹⁵

Other symptoms that can occur are:

• Lower than average scores on IQ tests
• Inability to connect actions with consequences
• Trouble learning in school
• Difficulties talking or talking late
• Difficulty communicating or socialising with others

Diagnosis and assessment 

Doctors diagnose children with ID through a test of intelligence or cognition. This is often scored on an Intelligence Quotient test. This test helps the healthcare professional examine the abilities of a person to learn, think, solve problems and make sense of the world.¹⁶

Clinicians will also observe a child’s behaviour for signs of a disability and assess adaptive behaviour. These adaptive behaviours include coping skills and other behaviours that show how a child interacts with other people.¹⁶

Newborn screening is used to identify serious or life-threatening conditions that lead to intellectual disorders. This is done by testing blood samples taken from newborns while they are still at the hospital.¹⁶

Other diagnostic tools include:

• Prenatal Screening
• Amniocentesis
• Chorionic Villus Sampling (CVS)¹⁶

For developmental delay, healthcare providers use developmental screening to determine if a child is learning basic skills based on their age group. The healthcare provider may ask questions or talk and play with the child during examination, which is to show how the child learns, speaks, behaves and moves.⁸

As there is a wide range of growth and behaviour for each age and every child is different, it is natural for children to reach a milestone earlier or later than the general trend. A healthcare professional will look at the bigger picture and let the parent know where their child fits in.⁸

It is important to seek early diagnosis in a child as it will provide:

• Various treatment options
• Provide parents/carers and the paediatric team with information about clinical problems, complications and long-term prognosis
• Enable families to access special education and social care
• Allow accurate counselling of parents
• Options for prenatal diagnosis and pre-implantation genetic diagnosis¹⁷

Management and support strategies

There are many strategies put in place for a child who has either an intellectual disability or developmental delay.

For intellectual disabilities, treatment types include:

• Education support interventions:

This is put in place to help with changes to educational programs and structure. An individualised education plan is an example of this; it is used to create a custom educational plan and expectations.¹⁰

• Behavioural support interventions:

These interventions are put in place to help with learning adaptive behaviours and related skills.¹⁰

• Family education:

This is used to help families and loved ones with children who have intellectual disability learn more about intellectual disability and how to support a loved one who has it.¹⁰

• Various medications:

Sometimes medication is used to help with conditions that are related to or happen alongside intellectual disability, such as de Barsy Syndrome. Although medication does not treat intellectual disability itself, it can help with some of the symptoms that may contribute.¹⁰

• Community support:

This is when a person or their family can contact the local government agencies or support organisations, so that they can help them gain access to services they can benefit from, such as home or work environments.¹⁰

For developmental delays, treatment types include:

Depending on what specific developmental delay is identified, a child’s healthcare provider may refer them to one or more specialists. These include:

• A hearing specialist
• A speech therapist
• A developmental paediatrician
• A neurologist
• A provider of early intervention services⁷

Earlier intervention services are provided to support infants and toddlers with certain conditions. Such as delays in talking, thinking, playing or moving.⁷

An Individualised Family Service Plan (IFSP) may be put in place to plan based on the particular needs of a child and the family. The types of services include:

• Speech or language services
• Physical therapy
• Occupational therapy
• Audiology or hearing services
• Assistive technology⁷

Challenges and emotional impact 

Parents and loved ones may have situations where they could face challenges and emotional impact. According to a study, it was noted that families who have children with rare diseases tend to face negative psychosocial impacts and a reduced quality of life due to this. In addition, families have voiced that they experience financial burdens, which weigh heavily on them.^18,19

Even when a child receives a diagnosis for a rare disease, it doesn’t always lead to a linear treatment plan. As every diagnosis of a child is unique, it is important that a knowledgeable doctor is available to provide an accurate care plan.²⁰

The emotional impact that parents may face is:

• Uncertainty and fear
• Guilt and self-blame
• Isolation
• Chronic stress
• Depression and anxiety

There are various support groups available for families so they don’t have to go on this journey alone. Sometimes, a parent caring for a child with a rare disease can experience a sense of loneliness. Utilising support groups can help build connections with others on a similar journey and can offer words of encouragement and help a parent ease care for their child.²⁰

Professional Counselling is also available to provide strategies to manage stress, anxiety and depression. It can be a safe space to explore feelings and find coping mechanisms.²⁰

Summary

In summary, De Barsy Syndrome (DBS) is a rare genetic disorder which causes eye abnormalities, developmental delays, intellectual disability, a prematurely aged appearance and loose, sagging skin that lacks elasticity.³ Children with DBS tend to experience delayed motor, speech, social and cognitive development, which affects their ability to learn and grow. Support such as education support interventions, behavioural support interventions, individualised Family Service Plan, community support, and family support are all essential for maximising potential.^7,10 Additionally, it is important to note that highlighting support and professional counselling is essential to improve outcomes for both children and caregivers.²⁰