Physical Challenges
If a student with Barth syndrome (BTHS) is in a public school system in America and if he does not already have protection under the IDEA, his health issues will almost certainly make him eligible for legal protection under Section 504 of the Rehabilitation Act of 1973 (504) as well as under the Americans with Disabilities Act of 1990 (ADA). Because of the physical challenges that most students with BTHS face, they will likely need some of the special accommodations discussed below. The legal protections are often necessary to ensure a student with BTHS is fairly treated in the educational environment.
Children who live with BTHS often have difficulty with fine motor skills—usually defined as the coordination between the eyes and the hands/fingers. Holding pens correctly and using scissors can be much more complicated, strenuous, and fatiguing for a student with BTHS than for his classmates. Visual spatial skills can be compromised in an individual with BTHS. In order to improve their fine motor skills, many children with BTHS receive Occupational Therapy (OT) at some point in their early education. Occupational therapists help students not only learn how to manipulate their hands but also configure their environment in a way that will best suit them. For instance, an OT might help make sure that a student has a desk that is best fitted for him and pens that he can hold most effectively. To learn more about what OT is and how it might be appropriate for an individual with BTHS, parents can easily check out the American Occupational Therapy Association website.
Children with BTHS also have difficulty with gross motor skills[i]—usually defined as the activities done by the arms, legs, and large muscle groups of the body. Running, jumping, and carrying large objects can be a challenge for a student with BTHS. Between general fatigue and the delayed development of the body of a child with BTHS, some individuals cannot take even walking long distances for granted. To meet these needs, many students with BTHS receive Physical Therapy (PT) to strengthen their bodies. Published case reports about such rehabilitative therapies further promote the benefit of such therapies [ii],[iii]. To learn more about PT and how it might be appropriate for an individual with BTHS, check out the American Physical Therapy Association website.
OT and PT specialists diagnose students’ challenges, help students strengthen their muscles in order to overcome their challenges, and prescribe solutions for students who need accommodations, tools, and special technology in order to function independently. Because the vast majority of students with BTHS need some form of PT and OT, all those diagnosed with BTHS should be screened for PT and OT needs as soon as they are diagnosed with BTHS. Furthermore, parents should seek consultations with PT and OT specialists whenever their children face new physical challenges, and they should be proactive with their children’s schools in requesting PT and OT aid for their children.
Some parents also noted that their children received speech therapy at a young age. Again, considering the developmental delays caused by BTHS, it is not surprising that boys would begin speaking late and would need some extra help to catch up with their classmates.
In the Barth Syndrome Registry study, 30 of 60 males older than age three years reported delay either in first words or in putting words together; 31 of 67 participated in speech therapy. Sensory issues related to feeding and eating are common, and many patients have a strong preference for salty, cheesy, and spicy foods while having an overall restricted repertoire of foods. Some issues such as a strong gag reflex manifest early in development[iv].
As mentioned above, almost all students living with BTHS have severe difficulties with handwriting, and this is probably the result of both fatigue and compromised fine motor skills. A student with BTHS should learn how to type as soon as he can in order to ease the burden of using his hand for writing. The Diana Hanbury King Keyboarding Skills method of teaching typing to young is a highly praised approach for teaching dyslexic students keyboarding skills. Another method for teaching keyboarding is called Type It by Joan Duffy.
A student with BTHS might also explore the option of a voice recognition to written transcription program. If you are unfamiliar with such apps, check out side-by-side reviews and comparisons on sites such as Business.com. There are numerous leads and reviews for assistive technology available on Noodle.com.
For some students, absences from school present the biggest obstacle to their education. There have been cases in which students have missed 50%, 60%, 70% or more of the school days in a year. Nearly half of the parent respondents to the educational survey rated the level of seriousness of absences as a 5 out of 5. A quarter of the parents, however, rated the seriousness of absences as a 1 out of 5 (and another quarter of the parents rated absences as a 3 out of 5), so again, we can find few patterns that apply to all students with BTHS. There exist little data to help us understand when students are more likely to miss a lot of school, but many parents have noted that in the periods of extreme challenges with health and stamina during periods of accelerated growth periods.
For students who miss a significant number of consecutive school days due to illness, public schools in the U.S. can sometimes offer tutoring better known as hospital homebound programs at no cost to the parents. For children who are in private schools, parents might still obtain this home tutoring by enrolling their child in the public-school system for the period that he is not able to go to school. It may be possible for him to begin attending classes at the private school after ending his enrollment in the public-school system.
A common problem faced by students with BTHS is the need to leave class to go to the restroom beyond set allowances. Often teachers may limit the number of restroom breaks students may take in a given day. However, some students with medical issues such as BTHS must be excused from these restrictions. Because of his medical condition and occasionally as a result of his medications, a student with BTHS must be allowed to excuse himself to the bathroom when he requests it. Teachers and administrators should to be alerted to this situation before students are caught in the position of having to explain their needs or worse—being unable to excuse themselves. If possible, it would be best, if the student could be permitted to leave the room without need calling attention to himself, particularly in grades beyond primary school. It is important for the teacher not to assume abuse of breaks with increased frequency to the restroom. Something far more serious may be occurring. The parent and teacher should have a discussion when increased frequency of bathroom breaks occur. The parent should also advise teachers when a change in medication occurs which may lead to changes in behavior and habits.
One physical challenge that all students with BTHS share is fatigue6,10,[v]. Almost every boy who lives with BTHS faces the educational challenge of an exhaustion that debilitates him on a daily basis. One youth described his daily experience of fatigue as a painful exhaustion in every limb, in the marrow of his bones, in every cell of his body. This physical challenge for students with BTHS is one of the largest obstacles to their gaining a normalized education. Regardless of the strategies employed to help combat an individual student’s fatigue, his educational progress will almost certainly be slower than his classmates’ as a result of his inability to work at a pace that most people consider normal.
The first step to coping with the effects of fatigue on students is making the distinction between true fatigue and laziness. Adolescents, whether they have BTHS or not, have the occasional tendency to indulge in natural adolescent behavior, but as a general rule, when a student with BTHS says he is tired and needs a rest, he needs to rest. There simply will be no productive activity out of an individual suffering from such fatigue, so immediate accommodations must be made for a tired boy to regain his energy.
Many students with BTHS have arrangements with their teachers that allow them to seek the rest they need when they need it. In some circumstances, boys are allowed to put their heads down on their desks for five minutes to regain their energy, and in other cases, students are allowed to excuse themselves to the nurse’s office where they can lie down for a short nap. Some students have identified particular points in the day when they become tired, so they are able to schedule a rest/nap time on a formal basis. It would be helpful for parents to provide the teacher with a window of times when their child is at his best and better able to focus as well as windows of time when the child need is most fatigued. With a sense of the average time the student is able to work before the need to rest, parents and teachers can plan lessons more effectively.
Eric Storch, PhD reported a significant need for academic accommodations for the 34 individuals with BTHS who participated in his research study. Specific accommodations included classroom seating changes, rest periods, schedule adjustments, note takers, extra books for home use, alternative assignments, extra tutorials, recordings and peer mentors[vi].
The physical education and sports elements of education must be modified dramatically for all students living with BTHS. At some point, almost every student has needed a reduced physical education requirement, and it almost goes without saying that most competitive sports are unfortunately not a possibility. Still, some creative solutions have been found to allow students the opportunity to participate in athletic endeavors. When actually participating in a sport, a student with BTHS could play in the goalie position or some similarly less strenuous role. Some students with BTHS with a love for sports have found it rewarding to be a time keeper and record the plays and game statistics and these are all important, challenging, and fun activities in sports such as basketball and baseball and football. Conversely, resistance non-aerobic exercise is suggested to improve muscle strength for those who have BTHS[vii].
Activity, Tai Chi is a soft martial art that not only improves both balance and strength but also improves health issues such as diabetes, arthritis, heart disease, and problems with the immune system. As Tai Chi can be performed in a wheelchair or even in bed, it is particularly well-suited for individuals living with BTHS. For a brief overview of this Chinese meditative martial art check out the Fung Loy Kok Institute of Taoism website. This site also offers a world directory of Tai Chi instructors, and you might be especially interested to explore the link for “health benefits.”
Some parent respondents to the educational survey shared their child was assigned an aide at school who watches him during lunch or recess or during a fire drill when there are many students around. At these times, the potential for a student with BTHS to be accidentally injured is higher than normal, and the extra pair of eyes on the student can be a tremendous help in keeping him away from the crowded and sometimes jostling hallways and stairwells. Parents of young children with BTHS have reported increased anxiety about being left behind or perception of increased vulnerability in an emergency situation.
Not all schools have school nurses. A school that has a student with BTHS, however, must have a school nurse on site. Furthermore, all teachers who work with students with BTHS should be trained in the use of cardiopulmonary resuscitation (CPR) as well as in the use of an Automated External Defibrillator (AED). Furthermore, for those students who have an Internal Cardiac Defibrillator (ICD), schools should have the essential information for how to care for a student should he have a medical emergency. Teachers are sometimes nervous about taking on such responsibilities, but a child with BTHS should be around adults who can react appropriately in a crisis. All teachers and school administrators in contact with a student with BTHS should be educated in the physical warning signs that a student might be in distress, and the BTHS Foundation handbook for faculty and administrators will outline these warning signs. Still, parents should provide a simple handout of the warning signs of medical problems to share with all educators who come into contact with him.
In preparation for each school year, parents should make sure that they have filled out an updated Care Plan for School Age Children with Barth syndrome. This form is easily downloaded from the Barth Syndrome Foundation website and, in addition to providing the school with essential medical and contact information, it lists the warning signs of problematic symptoms, offers tips for caring for a child with BTHS, and outlines some of the important academic issues facing students.
One of the most effective methods of clarifying for teachers and administrators the serious physical and medical realities of a child with BTHS is through direct contact between the child’s doctor and the school. Either through a letter or a phone call (or both), a doctor’s instructions lend validity and immediacy to the special needs of students who have BTHS. One parent noted her child’s school did not originally have a nurse, but a letter from her son’s doctor forced the school to commit the resources to have a full-time nurse on site. With few exceptions, every parent who has already initiated contact between their child’s doctor(s) and their child’s school has noted that the letters or the phone calls were extremely helpful in directing the school to best care for the student.
As a final note on the physical challenges faced by students with BTHS, significant anecdotal evidence suggests that as individuals approach their high school years, they should be prepared for greater health and fatigue issues. The demands on high school students tend to be greater than the demands on them in the elementary grades, and furthermore, students in high school are often experiencing their final growth spurts. All teenagers experience fatigue as their bodies take the energy to grow, but individuals with BTHS suffer considerably more than their peers at these times.
[i] Jarvis M, Garrett P, Svien L. Gross motor development of a toddler with Barth syndrome, an x-linked recessive disorder: A case report. Pediatr Phys Ther. 2001 Winter; 13(4):175-81
[ii] Finsterer J, Frank M. Haematological features in Barth syndrome. Curr Opin Hematol. 2013;20(1):36–40.
[iii] Singh HR, Yang Z, Siddiqui S, et al. A novel Alu-mediated Xq28 microdeletion ablates TAZ and partially deletes DNL1L in a patient with Barth syndrome. Am J Med Genet A. 2009;149A(5):1082–1085.
[iv] Reynolds S, Kreider CM, Bendixen R. A mixed-methods investigation of sensory response patterns in Barth syndrome: A clinical phenotype? Am J Med Genet A. 2012;158A:1647–53.
[v] Spencer CT, Byrne BJ, Bryant RM, et al. Impaired cardiac reserve and severely diminished skeletal muscle O2 utilization mediate exercise intolerance in Barth syndrome. Am J Physiol Heart Circ Physiol. 2011;301:H2122–9.
[vi] Storch EA, Keeley M, Merlo LJ, et al. Psychosocial functioning in youth with Barth syndrome. Child Health Care. 2009;38(2):137–156.
[vii] Bittle AJ, Bohnert KL, Reeds DN, et al. Reduced muscle strength in Barth syndrome may be improved by resistance exercise training: A pilot study. JIMD Rep. 2018;41:63-72.
