Introduction

Turner Syndrome, a chromosomal disorder affecting 1 in 2,500 live female births, is caused by the absence or abnormality of one of the X chromosomes. Symptoms include physical abnormalities, short stature, delayed puberty, and infertility. Diagnosis involves clinical evaluation and genetic testing. Care management involves a multidisciplinary approach, including speech and language assessments, swallowing and feeding therapy, individualized education programs, and sensory integration therapy. Assistive technology, such as orthopedic devices, speech generating devices, and adaptive equipment, can enhance quality of life. Genetic counseling, ongoing research, and support from advocacy groups are crucial for affected families.

Turner Syndrome Handout

Demographic Information

• Incidence: Approximately 1 in 2,500 live female births.
• Prevalence: Turner Syndrome affects about 1 in 2,000 to 1 in 5,000 females.
• Gender: Exclusively affects females.
• Onset Age: Present at birth (congenital).

Coding

• ICD-11: LD44.1
• OMIM: 163950
• UMLS: C0041408
• MeSH: D014597
• GARD: 7792

Medical Features and Pathophysiology

• Etiology:

• Pathology:

• Symptoms:

- Lymphedema (swelling) of hands and feet - Webbed neck - Low hairline at the back of the neck - Broad chest with widely spaced nipples - Growth and Development: - Short stature - Delayed puberty - Primary amenorrhea (absence of menstrual periods) - Infertility - Physical Characteristics: - Small lower jaw (micrognathia) - Low-set ears - High-arched palate - Short fourth metacarpal - Medical Issues: - Congenital heart defects (e.g., coarctation of the aorta, bicuspid aortic valve) - Kidney malformations - Hearing loss - Osteoporosis - Autoimmune disorders (e.g., hypothyroidism, celiac disease)

• Diagnosis:

- Prenatal Testing: Chorionic villus sampling (CVS) or amniocentesis to detect chromosomal abnormalities. - Postnatal Testing: Karyotyping and chromosomal microarray analysis (CMA) to identify the presence of a missing or structurally abnormal X chromosome. - Clinical Examination: Detailed physical examination and assessment of growth and developmental milestones.

Assistive Suggestions and Requirements:

Requirement Percentage for Assistive Technology:

A significant percentage of individuals with Turner Syndrome will benefit from assistive technology, particularly for communication, mobility, and daily living activities.

Assistive Technology Suggestions:

Mobility Aids:

• Orthopedic Devices: Braces or orthotics to support mobility and correct skeletal abnormalities.
• Wheelchairs or Walkers: For individuals with severe motor impairments.

Communication Aids:

• Speech Generating Devices (SGDs): To assist with communication for those with speech and language delays.
• Picture Exchange Communication System (PECS): For non-verbal individuals to communicate using pictures.

Home Modifications:

• Adaptive Equipment: Specialized utensils, seating, and bathing aids to support daily living activities.
• Environmental Controls: Devices to assist with controlling the home environment (e.g., lights, doors) for individuals with limited mobility.

Access Modalities:

• Switch Access: For controlling communication devices and computers, especially for individuals with limited motor control.
• Touchscreen Devices: For those with adequate hand dexterity to interact with communication aids and educational tools.
• Eye-Gaze Technology: For individuals with severe physical limitations to control devices using eye movements.

Care Management and Therapeutic Techniques:

Aims:

• To manage symptoms and enhance the quality of life through a multidisciplinary approach.
• To provide supportive care and address medical, developmental, and educational needs.
• To offer education and resources to families and caregivers.

SLP Suggestions:

Assessment and Intervention:

• Regular Speech and Language Assessments: To monitor progress and adjust therapy plans.
• Early Intervention Programs: To address speech and language delays from an early age.
• Alternative Communication Methods: Introduction of AAC devices and strategies to support communication.

Swallowing and Feeding Therapy:

• Techniques to address feeding difficulties and ensure safe swallowing.

Special Educator Suggestions:

Individualized Education Programs (IEPs):

• Tailored educational plans to meet the unique needs of the child.
• Incorporation of speech, occupational, and physical therapies into the school day.

Behavioral Strategies:

• Use of positive reinforcement and structured routines to support learning and behavior management.
• Collaboration with families to ensure consistency between home and school environments.

Occupational Therapist Suggestions:

Fine Motor Skills Development:

• Activities to improve hand-eye coordination, dexterity, and functional use of hands.
• Use of adaptive tools and techniques to support daily living skills.

Sensory Integration Therapy:

• Techniques to help individuals with sensory processing issues.
• Creation of sensory-friendly environments to reduce overstimulation.

Recommendations on AAC and other details:

Text-Based AAC:

• Use of text-to-speech applications for individuals with literacy skills.
• Predictive text features to facilitate faster communication.

Symbol-Based AAC:

• For individuals with cognitive impairments affecting literacy, symbol-based systems can be beneficial.
• Dynamic display devices that can evolve with the user’s needs.

References:

• Grumbach, M. (1990). Turner Syndrome: Genetics, Organogenesis and Incidence. New York: Marcel Dekker.
• Stochholm, K., Juul, S., Juel, K., Naeraa, R. W., & Gravholt, C. H. (2006). Prevalence, incidence, diagnostic delay, and mortality in Turner syndrome. J Clin Endocrinol Metab, 91, 3897–3902.
• Sudbrak, R., Wieczorek, G., Nuber, U. A., Mann, W., Kirchner, R., Erdogan, F., Brown, C. J., Wohrle, D., Sterk, P., Kalscheuer, V. M., et al. (2001). X chromosome-specific cDNA arrays: Identification of genes that escape from X-inactivation and other applications. Hum Mol Genet, 10, 77–83.
• Suzuki, Y., Sasagawa, I., Tateno, T., Ashida, J., Nakada, T., Muroya, K., & Ogata, T. (2001). Mutation screening and CAG repeat length analysis of the androgen receptor gene in Klinefelter’s syndrome patients with and without spermatogenesis. Hum Reprod, 16, 1653–1656.

Additional Information

Turner Syndrome is a chromosomal disorder that presents significant challenges for affected individuals and their families. Early diagnosis and a comprehensive, multidisciplinary approach to care are essential for optimizing outcomes. Collaboration among healthcare providers, educators, and families is crucial to address the complex medical, developmental, and educational needs of individuals with Turner Syndrome. Access to resources, support groups, and advocacy organizations can provide valuable assistance and information to families navigating this condition.

Extended Information

Genetic Counseling and Family Planning

Families affected by Turner Syndrome may benefit from genetic counseling to understand the implications of the disorder, the risk of recurrence in future pregnancies, and available reproductive options. Genetic counselors can provide information on prenatal testing, including non-invasive prenatal testing (NIPT), chorionic villus sampling (CVS), and amniocentesis, to detect chromosomal abnormalities early in pregnancy. Families can also explore options such as preimplantation genetic diagnosis (PGD) for those undergoing in vitro fertilization (IVF) to select embryos without chromosomal abnormalities.

Research and Future Directions

Ongoing research into the genetic and molecular mechanisms underlying Turner Syndrome aims to improve our understanding of the disorder and develop targeted interventions. Advances in genomic technologies, such as whole-genome sequencing and CRISPR-based gene editing, hold promise for identifying the specific genes involved in Turner Syndrome and potentially correcting genetic abnormalities in the future. Additionally, research into early intervention strategies and therapies can help optimize developmental outcomes for affected individuals.

Support and Advocacy

Support organizations and advocacy groups play a vital role in providing information, resources, and community support for families affected by Turner Syndrome. These organizations often offer educational materials, support networks, and opportunities for families to connect with others facing similar challenges. Examples of such organizations include the Turner Syndrome Society and the Turner Syndrome Foundation. Engaging with these groups can provide families with valuable insights, emotional support, and practical advice for managing the complexities of Turner Syndrome.

In conclusion, Turner Syndrome is a complex chromosomal disorder that requires a comprehensive and multidisciplinary approach to care. Early diagnosis, individualized interventions, and ongoing support are essential for improving the quality of life for affected individuals and their families. Advances in genetic research and therapeutic strategies offer hope for better understanding and managing this rare condition in the future.

Epidemiology and Demographics

Etiology and Pathophysiology

Clinical Features and Stages

Diagnosis

Clinical Recommendations

Care Management

Transition Planning