Klippel-Feil Syndrome
Historical Context
Klippel-Feil syndrome (KFS) is a rare bone disorder first independently described by Frenchmen Maurice Klippel and Andre Feil in 1912. They observed a classic triad comprising a short neck, a low posterior hairline, and restricted motion of the neck due to fused cervical vertebrae.
Maurice Klippel (1858-1942)
Feil subsequently classified KFS according to three subtypes:
Type I: Massive fusion of the cervical spine
Type II: Fusion of one or two vertebrae
Type III: Presence of thoracic and lumbar spine anomalies in association with Type 1 or Type II KFS.
Epidemiological research has predicated a prevalence of 1 out of every 40,000 births worldwide.
In utero, some fetal life mutates through the anomalies in the genes, GDF6 or GDF3, during a few weeks after conception. At birth the condition may good undetected, but over time symptoms can become more noticeable. Some children with KFS won’t be diagnosed with vertebral problems until an accident causes pain or worsens the symptoms.
Etiology
The exact cause underlying KFS remains elusive to the research community, but anatomical researchers point to the mutations of GDF6 and/or GDF3 as contributing factors to the syndrome.
Common Symptomatology...
Short neck; curvature of vertebrae; and low hairline.
... and comorbidity
Torticollis (i.e., head is tipped to one side and the chin is turned to the other);
Congenital scoliosis (i.e., a curvature of the spine caused by congenital fusions);
Spina bifida (i.e., a congenital disorder caused by the incomplete closing in utero of the neural tube which encases the spinal cord);
Kidney, rib and heart malformations;
Respiratory problems; and,
Neurological deficits.
Standard Therapeutic Interventions
The treatment of KFS is directed toward the specific symptoms and associated physical findings that are apparent in each individual. Such treatment may require the coordinated efforts of a team of medical professionals who may need to systematically and comprehensively plan an affected individual’s treatment.
Circle of Care: School Health Services
In the Ontario public education system, the School Health Support Services (Program Policy Memorandum No. 81, 1984) may be invoked to support the health-educational strengths and needs of students with KFS. School Health Support Services (SHSS) are provided to children and youth in publicly-funded and private schools, and to children and youth that are being home-schooled to assist them in pursuing their education.
Health professionals working within the model of provision for PPM 81 may include: pediatricians; physicians who diagnose and treat disorders of the skeleton, muscles, joints, and related tissues (orthopedists); physicians who specialize in neurological disorders (neurologists); physicians who diagnose and treat heart abnormalities (cardiologists); specialists who assess and treat hearing problems (audiologists); eye specialists (ophthalmologists); and/or other health care professionals.
High-incidence Interventions at School
Use of Equipment
cervical collars, hearing aides, braces, traction
Use of medication
non-steroidal anti-inflammatory drugs (NSAIDs), and various pain medications (analgesics).
Sexual health and fertility education (e.g., secondary school)
Adolescents living with KFS may wish to consult with a general health practitioner about their sexual health before proceeding with their plans for childbirth and parenting.
For more information, please visit the following website:
Community Organizations
There are several community organizations dedicated to KFS in Canada and abroad. However, these primarily function as part of a conglomerate in the disability community, so vision and mission statements of such organizations often reflect investment in knowledge-mobilization activities (i.e., research design, collection, implementation, and dissemination) for the rare diseases populations.
The educational community often forms medical-health partnerships with the families who live with a son/daughter living with KFS. Sometimes these efforts take on outreach initiatives as part of a social objective to raise public awareness and bring further communal sensitivity to issues of disability that individuals with KFS face on a daily basis.
At the TVDSB, some community-health partnerships schools have formed include broad efforts to address the likelihood of mental health challenges associated with living with KFS (See TVDSB links below):
If you are feeling despair, sadness, have lost someone or feel that all hope is lost, call the Kids Help Phone. Talking with someone can really help you.
Mental health impacts many aspects of our children’s lives including how they feel about themselves and others, and how they cope with the demands of life. This site provides access to the many community services and resources available to support their emotional well-being.
This is a place for you and emerging adults to access info, resources and tools during tough times. Help yourself. Help each other. Share what you live and know.
Canadian Mental Health Association is a nation-wide charitable organization that promotes mental health for all. This website offers information on suicide prevention, anxiety disorders, understanding mental illness and much more.
This is the Executive Summary for the Thames Valley District School Board's Mental Health & Wellness Five-year Strategic Plan.
Inclusivity, Equity, and Social Justice
As a critically reflective pedagogue, I am committed to excellence in education and equitable educational opportunities and outcomes for all students. I dedicate and situate my teaching and learning in ways that lead to the elimination of discrimination as outlined in Ontario's Equity and Inclusive Education Strategy and in PPM No. 119, "Developing and Implementing Equity and Inclusive Education Policies in Ontario Schools."
For supporting the strengths and needs of students with KFS, I must recognize:
Diversity: The presence of a wide range of human qualities and attributes within a person and/or group, organization, or society. The dimensions of diversity include, but are not limited to: ancestry, culture, ethnicity, gender, gender identity, language, physical and intellectual ability, race, religion, sex, sexual orientation, and socio-economic status.
Equity: A condition or state of fair, inclusive, and respectful treatment of all people. Equity does not mean treating people the same without regard for individual differences.
Inclusive Education: Education that is based on the principles of acceptance and inclusion of all students. Students see themselves reflected in their curriculum, their physical surroundings, and the broader environment, in which diversity is honoured and all individuals are respected.
Pedagogical Considerations
Under the pretense of these three aforementioned fundamental principles of teaching and learning, there are several facets to pedagogy that can be designed to support the strengths and needs of students living with KFS. While each student must be respected for their unique capabilities, interests, and diversity, some common approaches, strategies, and exercises can be taken into consideration for all.
Assume that students with KFS are capable, confident, and (self-)caring. Students with KFS typically do not experience challenges associated with cognitive functions due to their syndrome (Stallmer, Vanaharam, & Mashour, 2008), so provincial curricula program planning for these students and others like them can be pooled together for the school year. This initial (proactive) assumption also positions the educator with the potential to gain critical insight into the educational relationship that can be productively forged between the home and school environment.
Build an inclusive, caring, and trusting classroom environment for all students. When a student enters into the classroom with KFS, there might be interest and curiosity raised among and within the population. Some useful interventions include:
(a) Use person-only language: School language practitioners can use the name of the student. Those who use the student's name (e.g., Jacob) need not associate it with the student's condition (e.g., Jacob with KFS), disability (e.g., KFS), or project through usage of slang (e.g., disabled, hunchback, stiff neck), innuendo, or stereotype. Such associations can become stigmatizing; and thus lead to discrimination based on disability. However, in cases where referring to the student in the third person is inescapable, use people-first language (see video above).
(b) Prepare and practice for classroom learning about disability seamlessly throughout the school year (e.g., read-alouds, novel studies, experiments, interactive or cooperative games, inquiries, and guest-speakers), and include reference to KFS along this trajectory with the consent of the student with KFS.
Co-design and/or co-update an Individual Education Plan (IEP) that is customized to the unique strengths and areas of need for the student with KFS. Some restrictions for students with KFS may include limitations to physical movement and dexterity; gross motor strength and coordination; speed, agility, and stamina (Tracy, Dormans, & Kusumi, 2004).
Design an effective Parent Engagement Program (overall and for each student), but tailor to the unique circumstances for the family living with KFS. Communicate via newsletters, emails, and classroom websites. Define broadly what it means for the family to "help"--i.e., profiling a spectrum of engagement tasks such as listening, monitoring, discussing, evaluating, and so on. Co-construct opportunities for all classroom families to share in the curricular expertise for a day, activity, or unit of study. Research shows that when parents/guardians believe they can contribute the skills and know-how towards shaping the school culture and its values for teaching and learning there is a marked improvement in the students' school achievement overall (Parent Engagement, 2012, p. 6).
Life Skills Training and/or Assistive Technologies: Educators may wish to plan for alternative expectations for the student with KFS in addition to delivering the provincial curricula with some possible accommodations and/or modifications based on the degree of expressed autonomy (i.e., demonstration of self-care abilities) of the student living with KFS. With evidence of some physical restrictions based on the anatomical frame of living with KFS (Samartzis, Lubicky, Herman, & Chen, 2007), students with these disabling experiences may require School Health Support Services (SHSS) personnel assisting them with the acquisition of certain self-care skills, including toileting, feeding, and clothing, in a school-based environment, and further attuned to age and developmental maturity. The classroom educator may further support the students' strengths and areas of need in assigning them with peers or colleagues in the learning environment who can assist them in the use of learning and classroom materials (e.g., physical education equipment, chairs), personal clothing (e.g., winter attire, footwear), and participation in cooperative games (e.g., physical education or athletic exercises).
Addressing medical fragility: Students living with KFS should be seated in a location that does not require rotation of the head to participate in classwork and for communication with class members, since this expectation would likely be disabling to the student. The experience of physical pain is the most expressed common side-effect of living with KFS (Klippel-Feil Syndrome, 2017), so medications and therapeutic devices (e.g., neck collars, hot towels) may be used to reduce such effects throughout the school day. In most cases, the student with KFS need not require careful handling for his/her movement in and around the school community, although in some rare cases school personnel may need to assist with airway management (Stallmer, Vanaharam, & Mashour, 2008) or feeding (Hase, Kamekura, Fujisawa, & Fukushima, 2014). Should the student operate a wheelchair, allow enough room for him/her to travel freely (with or without additional support), so to minimize or eliminate need for further intervention.
How Can I "Build Each Student's Tomorrow, Everyday?"
(How can teachers ensure that a student with KFS reaches their full potential?)
Suggested Reading
Newsprint Articles
Community Organizations
Relevant Research Literature
Ehde, D., Dillworth, T., & Turner, J. (2014). Cognitive behavioural therapy for individuals with chronic pain. American Psychologist, 69(2), 153-166. doi: 10.1037/a0035747
Friedrichsdorf, S. J., et al. (2016). Chronic pain in children and adolescents: Diagnosis and treatment for primary pain disorders in head, abdomen, muscles, and joints. Children, 3(42), 1-26. doi: 10.3390/children3040042