Introduction

Pallister W syndrome is an exceptionally rare condition, with only six cases reported by the year 2000¹ and no additional cases documented since. The syndrome was first described in 1974 by Pallister and collaborators.⁴ 

Neurodevelopmental disorders (NDDs) refer to conditions that affect the brain’s development; leading to variations or differences related to someone’s behaviour, learning, memory, or social skills. People in this group are often described as neurodivergent or neurodiverse, meaning they may think, learn, and experience the world in their own unique way. Everyone’s needs are different- some may benefit from additional support, while others may not need much at all. Neurodevelopmental disorders are estimated to affect around 3% of children worldwide.⁹

Some examples of NDDs include intellectual disability (ID), autism spectrum disorder (ASD), and attention-deficit/hyperactivity disorder (ADHD).¹¹ In addition, the presence of two or more NDDs is common- for example, ID, ASD, and epilepsy often co-occurs in patients.⁹ This text aims to clarify the relationship between NDDs present in Pallister W syndrome and how to evaluate them.

Palliester W syndrome: a brief review 

Definition and cause

According to the National Organisation for Rare Disorders, Pallister W Syndrome, or simply W Syndrome, can be defined as a rare genetic disorder. The direct cause of this syndrome is unknown, and geneticists are still debating which change in the DNA may result in it.⁵ However, the syndrome’s main characteristics are its atypical facial aspects, on which the diagnosis is primarily based.¹

Signs and symptoms 

The National Organisation of Rare Disorders¹ lists the following symptoms: 

Facial features

• Clefting of the palate and upper lip^2,3,4
• Wide, flat nose^2,4 
• Spaced eyes, known as hypertelorism^2,4
• Droopy eyelids²
• Wide, flattened jaw²

Other Symptoms

• Learning difficulties^2,3,4 or global developmental delay⁵
• Speech problems¹ 
• Bone deformities of the limbs, such as cubitus valgus^2,3,4
• Seizures^2,3,4

In terms of developmental and neurodevelopmental features intellectual disability can range from moderate to severe, and individuals may also experience hearing loss and growth delay .⁵ In regard to appearance, some patients may have unruly hair(often described as a cowlick),⁴ acne scars, missing teeth, an enlarged uvula, or a prominent forehead.² Tremors and involuntary muscle contractions (spasticity)³ may also be present.¹

Another symptom identified is pseudobulbar palsy,⁵ a disorder that affects the muscles of the face and throat, making speech, swallowing, and emotional expressions difficult to control.

Treatment

Diagnosis is usually confirmed in the newborn period or early infancy,⁵ after which treatment may include surgery to correct the cleft palate and lip, as well as to address any deformities of the arms and legs if necessary.¹ Treatment will depend on which symptoms are present. The healthcare team can plan management accordingly; for example, seizures can be controlled with medication, special education may be recommended, as well as speech therapy,¹ occupational therapy for developmental delays, physiotherapy for motor impairments, or care from other specialists may be provided.

Neurodevelopmental assessment: What is neurodevelopment, and how can it be evaluated?

Neurodevelopment is the process of how the brain builds and organises itself, before and after birth, to form connections between the brain and body. These connections allow us to perform everyday activities such as learning, communicating, reading, memorising, or paying attention. If , for any reason, there is a disruption to this process or the structures involved, then a neurodevelopmental disorder may result.⁹ 

Some well known neurodevelopmental disorders include developmental coordination disorder (DCD) (classified within the motor disorders group), developmental language disorder (DLD) (within communication disorders), intellectual disability (ID), autism spectrum disorder, and attention deficit hyperactivity disorder (ADHD).^10,11 A person may have more than one of these conditions at the same time, a situation known as comorbidity.⁷ These disorders share difficulties in achieving cognitive, emotional, and/or motor developmental milestones.⁹

But how does this relate to Pallister W syndrome? Children with Pallister W syndrome are known to experience learning difficulties and may present global developmental delay.^2-5 In other words, neurodevelopmental disorders can be a part of this syndrome. Early intervention services and a multi-disciplinary team (MDT)^7,8 are essential to investigate any comorbidities and how they affect the the person's life before planning the most appropriate support .⁹

A child should be evaluated if there are concerns in any of the areas listed below:⁷

• Communication and social interaction: How a child talks, expresses interests, shares ideas, plays, and connects with others through words, gestures, or facial expressions
• Emotional regulation: How a child understands, manages or controls their own feelings, espeically when upset or frustrated
• Coordination and movement: How well a child uses their body to move, balance, write, or perform daily tasks
• Intellectual development: How a child learns, plays, is able to solve problems, and whether they need extra support
• Reduced independence in performing daily tasks: Difficulty doing everyday activities by themselves, like dressing, eating, or personal hygiene
• Other concerns: Notable changes in behaviour, feeling very upset or anxious, repetitive thoughts or actions, or changes in eating, sleeping, energy levels, or being inactive

The areas described above relate to another concept: developmental milestones. These are skills that children are expected to begin developing by certain ages.¹² The observed areas usually include physical, cognitive, language, social, and emotional development. When there is a delay in any of these areas, for example, a child who does not start speaking or walking at the expected time, or even subtler difficulties such as challenges with school learning, parents usually seek support, and a neurodevelopmental assessment maybe carried out.

 A guideline from Scotland describes how a neurodevelopmental assessment should be carried out⁷. It typically involves:

• Investigating the medical and developmental history of the child
• Understanding how the child is currently (what she is doing or not being able to do)
• Gathering reports from the child, self-reports, or observations from others
• Collecting information from people in the child’s environment, such as at home
• Making clinical observations, for example, at home or at school
• An assessment of the child’s skills 
• An evaluation of the child’s functioning and participation in activities and social interactions appropriate for their age
• Consideration of the child’s environment, including social and physical factors surrounding the child and family

FAQs

Is a neurodevelopmental assessment done only and exclusively when neurodevelopmental disorders are suspected?

The short answer is no. For example, Pallister W syndrome is a rare genetic syndrome that is not classified as a neurodevelopmental disorder, but can be associated with developmental delays or have a comorbidity with a neurodevelopmental disorder. The key is to identify and prevent developmental delays that affect the child’s life.

Does a neurodevelopmental assessment only look for deficits?

No. The assessment should consider the context in which the person lives, what they are capable of developing (not just what they cannot), and their goals.⁷

Who performs the neurodevelopmental assessment?

Neurodevelopmental assessments are usually done by a specialised team of professionals, not just one person. This team can include: paediatricians, occupational therapists, speech and language therapists, psychologists, neuropsychologists, and other experts who work together.

What are the stages of the neurodevelopmental assessment?

The stages of the neurodevelopmental assessment can vary between services; however, they generally include screening with standardised questionnaires and forms, face-to-face appointments, more detailed clinician assessments involving tests, interviews, and observations, and assessment outcomes to determine the findings and whether further investigation is needed. Professionals may also visit the child at home or at school during the investigation phase.

How long does a neurodevelopmental assessment take?

The total time to reach a final diagnosis depends not only on the complexity of the case but also on the service accessed. From the referral request, an NHS service mentioned it should be no more than 19 weeks for core cases and no more than 36 weeks for complex cases.⁷ Follow-up meetings after diagnosis should take place within eight weeks of sharing the diagnosis.

What are the challenges in a neurodevelopmental assessment? 

One challenge is that most of the tests used are standardised based on typically developing children within a certain age range and methodology, making it difficult to generalise and use these tests effectively for individuals with intellectual disabilities. However, they can still provide valuable clues for the clinician and, together with interviews and observations, they are reliable and safe ways to determine the support these individuals need. 

Summary

Pallister W syndrome is a rare condition where intellectual disability and other neurodevelopmental disorders or developmental delays often overlap. Despite its low incidence, it is essential to prepare the team receiving a person with this syndrome to assess and discuss the possibility of developing any neurodevelopmental disorder and to act with early intervention to promote quality of life.This assessment can be planned within a specific timeframe and discussed with the family, who should always be well-informed. Moreover, we can think of promoting habilitation using the six ‘F-words’ of neurodisability:⁶ Family, Friends, Function, Fun, Fitness, and Future, as well as building on the individual's strengths, interests, and opportunities.