Cohen syndrome in children warning signs best treatment methods and support

Have you noticed any delays in your child’s growth or difficulties with speech and walking? The reason could be Cohen Syndrome, a rare genetic condition that affects both the physical and mental development of children.

In this Dalili Medical article, we will cover in detail:

The symptoms of Cohen Syndrome in children.
Its causes and how it is inherited.
Diagnostic methods and medical tests.
Different treatment and management options.

You will also learn about early warning signs, how to properly support your child, and the best medical and educational solutions to improve their daily life.

This article serves as a practical guide for parents who want to safeguard their children’s health and ensure proper and accurate follow-up care.

1. What is Cohen Syndrome?

Cohen Syndrome is a rare genetic disorder that affects both the physical and mental development of children, and sometimes impacts organs such as the heart and kidneys. Children with this condition often have distinctive facial features, growth delays, and difficulties in learning and communication.

2. Is Cohen Syndrome genetic?

Yes. Most cases are inherited in an autosomal recessive pattern, which means the child must inherit the mutation from both parents in order to show symptoms.

3. What are the main symptoms of Cohen Syndrome in children?

Distinctive facial features: round face, wide-set eyes, flat nose.
Delayed motor and speech development: children may walk or speak later than usual.
Learning and communication difficulties: issues with concentration, memory, or self-expression.
Hearing or vision problems: some children have impaired hearing or sight.
Health problems: in some cases, the heart or kidneys may also be affected.

4. How is Cohen Syndrome diagnosed?

Clinical examination: looking for distinctive features and symptoms.
Genetic testing: confirms the diagnosis and identifies the type of mutation.
Comprehensive evaluation: including growth assessment, hearing, vision, heart, and kidney checks depending on the child’s condition.

5. Is there a cure for Cohen Syndrome?

No. There is currently no definitive cure since it is a genetic disorder. However, symptoms can be managed, and the child’s quality of life can be improved through:

Growth and learning support.
Regular physiotherapy and motor exercises.
Specialized educational programs.
Routine medical follow-ups for affected organs.

6. How can parents support a child with Cohen Syndrome?

Early intervention programs to develop motor and cognitive skills.
Special education plans tailored to the child’s abilities.
Speech and language therapy to improve communication.
Psychological and social support to build self-confidence.
Regular medical check-ups for early detection of complications.

7. Can children with Cohen Syndrome live a normal life?

Yes. With early diagnosis and continuous support, many children can achieve relative independence and actively participate in school and daily life.

8. Should every child with Cohen Syndrome undergo genetic testing?

Yes. Genetic testing is very important to:

Confirm the diagnosis.
Identify the specific mutation.
Help families plan for the future and assess recurrence risk in future pregnancies.

9. Does Cohen Syndrome affect physical growth?

Yes. Some children may have short stature or slow weight gain. With proper nutrition and physical activity, growth can be supported as much as possible.

10. Does Cohen Syndrome affect intellectual development?

It varies from child to child. Some may experience:

Delayed learning.
Concentration difficulties.
Memory problems.

Early intervention programs help improve learning abilities and cognitive skills.

11. Are there heart or kidney problems linked to Cohen Syndrome?

Yes. Some children may have congenital heart defects or kidney issues. Regular check-ups with a cardiologist and nephrologist are essential to detect and manage problems early.

12. What is the role of physiotherapy?

Strengthens muscles and improves balance.
Helps the child walk, sit, and perform daily activities more confidently.

13. Does the child need school support?

Yes. Many children benefit from:

Special education programs based on their abilities.
Assistive learning tools, especially if there are hearing or vision issues.
Teachers being aware of the child’s condition to provide the right support.

14. Does Cohen Syndrome affect speech and communication?

Yes. Some children experience delays in speech and language development.

Speech and language therapy can significantly improve communication skills.

17. Can the condition be prevented in future children?

If there is a family history of Cohen Syndrome, genetic testing before pregnancy is highly recommended.
Prenatal screening can also help detect the risk of the baby being affected.

18. How can the child’s psychological well-being be supported?

Provide a stable and emotionally supportive environment.
Encourage the child to express their thoughts and feelings.
Engage them in group activities to build self-confidence.

19. Does the child need continuous follow-up after diagnosis?

Yes. Regular monitoring of growth, hearing, vision, heart, and kidney health is essential.
Treatment plans should be adjusted according to the child’s individual needs and progress.

20. What are the main family tips for dealing with the child?

Patience and consistency are very important.
Involve all family members in supporting the child’s daily life.
Celebrate even the smallest achievements to motivate the child and boost confidence.

Causes of Cohen Syndrome in Children

Genetic Cause

Cohen Syndrome is caused by mutations in the VPS13B (also known as COH1) gene.
This gene produces a protein that regulates cell growth, especially in the brain, eyes, and blood.
When the gene doesn’t function properly, it leads to problems in physical and mental development.

Inheritance Pattern

Cohen Syndrome follows an autosomal recessive inheritance.
A child must inherit two faulty copies of the gene (one from each parent) to develop the condition.
If the child inherits only one faulty gene, they become a carrier without showing symptoms.

Risk Factors

Consanguineous marriages (marriage between relatives) increase the likelihood that both parents carry the same faulty gene, raising the chances of having an affected child.

Symptoms of Cohen Syndrome in Children

1. Growth and Development

Delayed sitting, walking, and speech.
Low muscle tone (child feels “floppy” or weak).
Short stature and delayed physical growth.

2. Facial and Physical Features

Distinctive facial features, including:
- Small head (microcephaly in some cases).
- Wide-set or deep-set eyes.
- Short nose.
- Wide mouth with small, irregular teeth.

3. Eye and Vision Problems

Severe nearsightedness (myopia).
Retinal problems that may cause vision loss.
Sometimes sensitivity to light.

4. Behavioral and Cognitive Symptoms

Intellectual disability of varying degrees.
Learning difficulties.
Autism-like behaviors in some children.
Extreme shyness or social interaction challenges.

5. Blood and Immune System Issues

Low white blood cell count (neutropenia) → frequent infections.
Weakened immune system.

6. Other Possible Symptoms

Obesity developing with age.
Dental and gum problems.
In some cases, heart or bone abnormalities.

Stages of Cohen Syndrome in Children

1. Infancy (Birth – 1 year)

Low muscle tone and weak movements.
Delayed head control and sitting.
Feeding difficulties sometimes.
Relatively small head size.

2. Early Childhood (1 – 5 years)

Delayed walking and speech.
Facial features become more recognizable (wide/deep-set eyes, wide mouth, small teeth).
Weak immunity → recurrent infections due to neutropenia.
Early signs of vision problems like myopia.

3. Middle Childhood (6 – 12 years)

Clear learning difficulties at school.
Autism-like behaviors: shyness, poor social interaction.
Gradual weight gain or obesity.
Dental and gum problems.
Worsening vision problems.

4. Adolescence (13 – 18 years)

Ongoing learning and behavioral challenges.
Severe vision impairment due to retinal degeneration.
Increased weight gain during puberty.
Possible joint or bone problems.

5. Adulthood and Beyond

Symptoms usually persist with age.
Obesity and vision problems become more pronounced.
Ongoing social and behavioral challenges, although many individuals have a friendly and shy personality.

⚠️ Complications of Cohen Syndrome in Children

Growth and Development

Significant delays in walking and speaking.
Muscle weakness → child lags behind peers in motor skills.
Short stature and overall delayed physical growth.

Cognitive Abilities and Learning

Intellectual disability of varying degrees.
Persistent learning difficulties at school.
Issues with attention and concentration.

Vision

Severe myopia.
Retinal dystrophy (progressive retinal problems).
Gradual vision loss, which may progress to partial or near-total blindness over time.

Immune System

Low white blood cell count (Neutropenia).
Frequent infections such as ear infections, chest infections, or gum infections.
General immune weakness, making the child more prone to illnesses.

Behavior and Personality

Extreme shyness and difficulty with social interaction.
Autism-like behaviors.
Increased dependency on others.

General Health

Weight gain or obesity, especially after childhood.
Dental and gum problems (infections, early tooth loss).
Possible joint or bone issues in some cases.

Diagnosing Cohen Syndrome in Children

Medical History and Clinical Examination
Doctors will ask parents about:

Developmental delays (walking, speech, motor skills).
Recurrent problems such as infections or vision difficulties.

During the exam, the physician may notice:

Distinctive facial features (small head, wide mouth, small teeth).
Muscle weakness.
Short stature.

Blood Tests

Complete Blood Count (CBC) → often reveals low white blood cells (Neutropenia).
Helps explain the child’s recurrent infections.

Eye Examinations

Pediatric ophthalmology assessment → to detect myopia or retinal problems.
Sometimes a retinal scan (fundus examination) is performed for detailed evaluation.

Developmental and Cognitive Assessments

Tests to measure IQ and learning abilities.
Monitoring of behavioral and social skills.

Genetic Testing ✅

DNA testing to confirm mutations in the VPS13B (COH1) gene.

This test confirms the diagnosis with 100% accuracy.
It can also be performed on the parents to check whether they are carriers of the condition.

6. Additional Examinations (if needed)

Imaging tests (X-rays or ultrasound) if there are suspected problems with the liver or heart.
Dental checkups with a pediatric dentist to evaluate the child’s teeth and gums.

How to Support Children with Cohen Syndrome?

1. Comprehensive Medical Follow-Up

Regular monitoring of the child’s growth: height, weight, and head circumference.
Follow-up on health issues such as heart or kidney conditions if present.
Routine visits to pediatricians and specialized doctors depending on the case.

2. Supporting Motor Growth and Development

Physiotherapy: to strengthen muscles, improve balance, and support walking.
Occupational Therapy: to enhance the child’s daily living skills.

3. Speech and Language Support

Speech therapy sessions with a language specialist to improve communication skills.
Use of alternative communication tools if speech is difficult (pictures, gestures, or assistive devices).

4. Specialized Education

Enrolling the child in schools or programs designed for children with special needs.
Adjusting the learning environment to match the child’s abilities and requirements.

5. Psychological and Social Support

Helping the child adapt socially and develop communication skills with peers.
Providing psychological support for both the child and the family to cope with daily challenges.

6. Early Intervention Programs

Early intervention starting in infancy and early childhood improves both cognitive and motor skills.
Focus on developing basic skills to prepare the child for independent living in the future.

7. Family Involvement

Active participation of all family members in the child’s care and daily support.
Teaching siblings how to interact properly and encouraging the child’s progress consistently.

Treatment of Cohen Syndrome in Children

Cohen Syndrome is a genetic disorder, and there is no cure to eliminate the condition itself since it is caused by a gene mutation. However, treatment focuses on managing symptoms and improving the child’s quality of life through a multidisciplinary team.

1. Medical Care and Health Monitoring

Growth monitoring: regular measurement of height, weight, and head circumference.
Heart and kidney follow-up: some children may need care from a cardiologist or nephrologist.
Other related conditions: such as vision problems or digestive issues, treated based on need.

2. Physical and Motor Therapy

Physiotherapy: strengthens muscles, improves balance, and helps the child walk confidently.
Occupational Therapy: develops essential daily skills such as eating, dressing, using tools, and mobility at home or school.

3. Speech, Language, and Communication Support

Regular speech therapy sessions to improve verbal and non-verbal communication.
Alternative communication systems when speech is difficult, such as:
- Picture Exchange Communication System (PECS).
- Simple sign language or speech-generating devices.

4. Educational and Developmental Support

Placement in specialized schools or programs tailored for children with special needs.
Adjusted classroom environments: smaller groups, supportive teaching tools, and personalized curricula.
Early educational programs starting at a young age to build motor and cognitive skills.

5. Psychological and Social Support

Counseling to strengthen self-esteem and social adaptation.
Social programs to teach interaction and communication with others.
Family counseling to ensure parents and siblings can provide consistent support.

6. Assistive Devices and Modern Technology

Hearing aids or auditory support devices if hearing problems exist.
Mobility aids: walking sticks, balance support devices, or safety adjustments at home.
Educational aids: screen magnifiers, digital learning tools, and sensory-friendly equipment.

7. Ongoing Monitoring and Regular Follow-Ups

Continuous follow-up with a multidisciplinary team: pediatrician, speech therapist, physiotherapist, special education specialist, ophthalmologist, or ENT doctor depending on needs.
Regular adjustments of therapy plans and assistive devices based on the child’s progress.