Craniosynostosis is a rare but serious condition in which the bones in a baby’s skull fuse too early, affecting the shape and structure of the head. This can lead to developmental issues if not treated promptly. Let’s understand this condition in detail from this article.

Types of Craniosynostosis

The types of craniosynostosis are categorised based on the affected sutures:

• Sagittal Craniosynostosis: Premature closure of the sagittal suture, causing a long, narrow skull (scaphocephaly).
• Coronal Craniosynostosis: Affects the coronal sutures, leading to asymmetry in the forehead; can be unicoronal or bicoronal.
• Metopic Craniosynostosis: Involves the metopic suture, resulting in a triangular-shaped forehead (trigonocephaly).
• Lambdoid Craniosynostosis: Rare, affecting the lambdoid sutures, causing flattening at the back of the head.
• Syndromic Craniosynostosis: Associated with genetic syndromes like Apert or Crouzon, involving multiple sutures and other anomalies.

Early Signs of Craniosynostosis

Parents should watch for these craniosynostosis symptoms in infants:

• A misshapen skull that doesn’t improve over time.
• Abnormal or asymmetrical head growth.
• Bulging fontanelle or soft spot on the head.
• Developmental delays (in severe cases).
• Increased intracranial pressure, causes irritability, vomiting, or lethargy.

Diagnosing Craniosynostosis

Early diagnosis of craniosynostosis is essential for timely treatment and improved outcomes. Diagnosis involves a physical examination, imaging studies, and sometimes genetic testing.

Physical Examination

To diagnose craniosynostosis, a healthcare provider will first conduct a physical examination. This includes observing the shape of the skull for any abnormalities, feeling the sutures for ridges or firmness, checking the fontanelles for bulging, and looking for facial asymmetry. These signs can indicate different types of craniosynostosis, such as sagittal or coronal.

Imaging Tests

Imaging studies, including X-rays, CT scans, and MRIs, are necessary to diagnose craniosynostosis and assess the extent of the condition. X-rays can show irregularities in the skull, but CT scans provide high-resolution 3D images to identify which sutures have fused prematurely. MRIs may be recommended to evaluate potential brain abnormalities in severe cases.

Genetic Testing (When needed)

In cases where craniosynostosis may be part of a genetic syndrome like Crouzon, Apert, or Pfeiffer syndrome, genetic testing may be recommended to confirm or rule out certain conditions. A geneticist or genetic counsellor may be involved in evaluating the child’s family history and suggesting tests to look for mutations in specific genes associated with craniosynostosis. This information can help determine if the condition is part of a broader genetic syndrome, which can impact the treatment plan and long-term prognosis.

Assessment of Developmental Milestones

Craniosynostosis can impact brain development and cause delays in reaching developmental milestones such as motor skills, cognition, and social development. Doctors monitor a child’s progress in these areas and may recommend neuropsychological assessments if there are concerns about delays. Early diagnosis and intervention are crucial for managing the condition effectively.

Referral to a Specialist

If craniosynostosis is suspected or confirmed, the paediatrician may refer the family to experts for further evaluation: a paediatric neurosurgeon for potential surgery, a craniofacial surgeon for skull deformities, and a geneticist for genetic conditions.

Effects of Craniosynostosis Later in Life

Craniosynostosis, if untreated or diagnosed late, can impact physical appearance and neurological development in children long-term. Early intervention and treatment can help many children lead healthy lives.

Physical Effects

Children with craniosynostosis may experience lasting cosmetic concerns related to the skull’s shape and development. This includes abnormal skull shape, facial asymmetry, and flattened or misshapen head, even after surgery. Depending on the type and severity of the condition, some children may have noticeable irregularities in their appearance that can persist into adolescence or adulthood.

Neurological and Cognitive Effects

Craniosynostosis can restrict brain development and lead to various neurological effects. This includes increased pressure in the brain, which can cause headaches, vision problems, irritability, and developmental delays. Children with craniosynostosis may also experience motor skill challenges, cognitive delays, and behavioural issues, affecting their learning abilities and social skills. Early surgical intervention can significantly reduce these risks.

Impact on Vision

Craniosynostosis can impact eyes and vision by putting pressure on optic nerves, causing vision problems and an increased risk of strabismus (crossed eyes) leading to double vision and depth perception issues. Untreated cases may result in reduced vision or blindness.

Psychosocial Effects

Children with craniosynostosis may experience social stigma, body image issues, and psychological impacts due to their physical appearance. This can lead to challenges with peer relationships and self-esteem, as well as anxiety, depression, and social withdrawal. Support from family, friends, and counsellors is important in helping children manage these emotional challenges.

Craniosynostosis Surgery Outcomes and Long-Term Care

Timely surgery and ongoing medical care can help mitigate the long-term effects of craniosynostosis in children. Early treatment improves skull shape, appearance, and overall development, reducing the risk of complications and cognitive delays. Regular monitoring after surgery is important to address any issues promptly.

Treatment of Craniosynostosis

Craniosynostosis is usually treated with surgery to correct skull shape, relieve brain pressure, and prevent developmental problems. Treatment method varies based on type, severity, age of child, and genetic factors. Early intervention is important for successful outcomes.

Surgical Treatment

Surgery is the main treatment for craniosynostosis, especially when it causes skull deformities or increased pressure in the head. The type of surgery depends on which sutures are affected and how severe the condition is.

Cranial Vault Remodelling Surgery

This surgery reshapes the skull to allow room for brain growth by removing fused sutures and reshaping the bones, commonly used to treat craniosynostosis in infants under six months. After surgery, children may need a few days in the hospital but usually recover quickly with normal brain growth.

Endoscopic Craniosynostosis Surgery

A minimally invasive procedure for infants with mild craniosynostosis involves small scalp incisions and an endoscope to remove fused sutures, reshaping the skull with minimal disruption. It is ideal for infants under three months old, especially for sagittal craniosynostosis, with a faster recovery time compared to traditional surgery. Infants may need to wear a helmet post-surgery to shape the skull as it grows.

Facial Reconstruction Surgery (For Syndromic Craniosynostosis)

Children with syndromic craniosynostosis may require complex surgeries to address skull and facial abnormalities, involving repositioning facial bones for improved symmetry and function. These surgeries are more invasive and may require multiple procedures throughout childhood with a longer recovery period.

Helmet Therapy

Helmet therapy post-surgery guides skull growth and shape, especially for mild craniosynostosis or after endoscopic surgery. Custom-made helmets encourage the skull to develop into a typical shape by gently redirecting growth. It is recommended for babies too young for traditional surgery or with mild craniosynostosis. Treatment lasts 6-12 months with regular monitoring and adjustments.

Follow-Up Care and Monitoring

Regular follow-up appointments post-surgery are needed to monitor recovery, brain development, and skull growth. Doctors will check for neurological issues caused by increased intracranial pressure or delays. The child’s head shape and growth will be monitored through physical exams and imaging studies. Developmental assessments will track cognitive, motor, and social skills, with early interventions recommended for any delays detected.

Non-Surgical Treatment Options for Mild Cases

In some cases of mild craniosynostosis, non-surgical options such as observation and monitoring or physical therapy may be considered. Observation involves regular check-ups to monitor the condition over time, while physical therapy can help correct head shape in babies with positional plagiocephaly.

Genetic Counselling (For Syndromic Craniosynostosis)

Genetic counselling and testing for children with syndromic craniosynostosis help families understand the genetic cause of the condition, potential risks for future pregnancies, and health implications. A geneticist will assess family history and perform tests to identify mutations related to craniosynostosis syndromes, which can guide treatment decisions and determine if further surgeries or treatments are needed for the child.

Long-Term Management and Psychological Support

Children who have had surgery for craniosynostosis may face long-term challenges related to appearance, cognitive development, and chronic health concerns. They may benefit from emotional support for self-image concerns and specialized therapies for speech and cognitive delays.

Craniosynostosis Life Expectancy and Long-Term Prognosis

The outlook for children diagnosed with craniosynostosis is typically very positive. Timely intervention is key in ensuring that craniosynostosis does not impact life expectancy. Regular follow-up appointments post-treatment are essential in promoting optimal growth and development.

Sagittal Craniosynostosis: A Closer Look

Sagittal craniosynostosis is a condition where the sagittal suture (fibrous join separating the left and right parietal bones of the skull) in the skull fuses too early, causing the head to grow long and narrow instead of expanding normally. It can be caused by genetic factors or syndromes or may happen spontaneously during foetal development.

Symptoms of Sagittal Craniosynostosis

While each case may vary, the primary symptom of sagittal craniosynostosis is the abnormal head shape. Sagittal craniosynostosis is a condition where the skull grows long and narrow, creating a boat-shaped appearance, because the sides of the skull cannot grow properly. A ridge may be seen on the top of the head due to premature fusion of the sagittal suture, especially in the early stages of the condition.

As the condition worsens, the head may become more lopsided or disproportionate, especially if the fusion causes more pressure in the skull. Severe skull growth restriction can impact brain development and cause delays in motor skills like lifting the head or sitting up in children.

Causes of Sagittal Craniosynostosis

The exact cause of sagittal craniosynostosis is not fully understood, but it can arise from several factors:

• Genetic Mutations: In some cases, sagittal craniosynostosis is linked to specific genetic mutations that cause the premature closure of sutures. These mutations are often inherited in an autosomal dominant manner, meaning that one affected parent may pass the condition onto their child.
• Syndromic Craniosynostosis: Although less common, sagittal craniosynostosis can sometimes be associated with genetic syndromes like Crouzon, Pfeiffer, or Apert syndrome. These conditions involve premature fusion of multiple sutures and may present with other anomalies such as facial asymmetry or developmental delays.
• Environmental Factors: Some cases of craniosynostosis may be triggered by environmental factors, including maternal smoking, certain medications, or other prenatal factors that can affect foetal development.
• Spontaneous Occurrence: In many cases, sagittal craniosynostosis occurs sporadically without any family history or underlying genetic syndrome.

Caring for a Child with Craniosynostosis

Craniosynostosis may seem daunting, but awareness and timely intervention can significantly improve outcomes. As a parent, you need to focus on four things:

• Early Intervention: Seek specialist care immediately upon noticing symptoms.
• Find the Right Specialist: Finding a good paediatric neurosurgeon or craniofacial surgeon is key.
• Leverage Support Groups: Connect with other families for shared experiences and emotional support.
• Follow-up Care: Regular check-ups ensure proper skull and brain development.

Families should prioritise early diagnosis, consult specialists, and embrace a holistic care approach. With the right support, children with craniosynostosis can lead happy, healthy lives.

Sources:

• https://www.childrenshospital.org/conditions/craniosynostosis
• https://www.chop.edu/conditions-diseases/craniosynostosis
• https://www.hopkinsmedicine.org/health/conditions-and-diseases/pediatric-craniosynostosis-causes-diagnosis-treatment
• https://www.mayoclinic.org/diseases-conditions/craniosynostosis/symptoms-causes
• https://www.childrensnational.org/get-care/health-library/craniosynostosis
• https://my.clevelandclinic.org/health/diseases/craniosynostosis
• https://www.verywellhealth.com/sagittal-craniosynostosis