Establishing collaborative care in Rett syndrome
Identifying opportunities for partnership with caregivers can positively impact RTT care beyond pharmacologic treatments
Caregivers of individuals with Rett syndrome (RTT) hold key, detailed information about their loved one. They are the experts on their children, with knowledge about symptom history, current challenges, and new or changing manifestations.
As their child’s most vocal and devoted advocate, caregivers are an ideal partner for the care team. Encouraging dialogue and combining the caregiver’s child-specific experience with your broader clinical experience can create a solid partnership.
Engaging in collaborative dialogue for comprehensive patient management
Caregivers can play an essential role within their loved one’s extended care team. They may possess deeper insights into the daily needs of their child and may help coordinate efforts across a large, multidisciplinary team of specialists. They can clarify any additional symptoms of RTT that may impact their child’s daily care.
While observations during appointments are vital to the individual’s continued health and wellbeing, what happens outside a clinical setting often affects the entire family. Collaborative conversations with the caregiver about navigating life with RTT are critical and can help better define what progress looks like.
Recognizing the impact of RTT symptoms with limited treatment options
RTT is multisystemic, unpredictable, and heterogeneous.1,2 Its very nature may make defining progress more challenging.
Without available pharmacologic interventions, certain developmental and functional regressions associated with RTT are not only challenging to the individual, but also to those providing their care. These can include:
Breathing abnormalities (eg, hyperventilation, breath-holding, air swallowing)3,4
Nighttime behaviors (eg, screaming, laughing)5
Stereotypic hand movements3
Non-verbal communication3
inattentiveness and anxiety3
Orthopedic and mobility issues3
Creating shared opportunities for RTT management
By combining the caregiver’s valuable insights with your clinical expertise, you may help create a partnership based on shared responsibility, shared decision making, and a shared knowledge base.
To help guide this collaboration, you may suggest that caregivers track certain symptoms. Caregivers can then keep a log of the symptoms, impact, and challenges they encounter each day to review with you at the next visit. At these visits, you may discuss possible approaches for challenges, such as3:
Feeding, bathing, and toileting
Nutritional guidance
Respiratory concerns (hyperventilation, breath-holding)
Poor circulation problems
Puberty challenges
Orthopedic challenges
Fine and gross motor milestones
Learning to use an augmentative communication device
Working together, clinicians can help identify areas for additional clinical assessments that are needed for caregivers to care for their loved one more comprehensively—managing previously unmanaged symptoms, transitioning their loved one to adult life and planning for future needs, and assisting with the complexities and regressions associated with RTT.
To help weave caregiver insights into a comprehensive management plan, this helpful tool can guide collaborative conversations during exams.
“We’re trying to transition to adult care...she needs medical specialties in pulmonology, cardiology, gastroenterology, neurology, psychiatry, and orthopedics. We have yet to find a GI doctor in our state who will take her on. It’s terrifying.”
– Caregiver and mother to 21-year-old with RTT
While diagnosis of RTT is rooted in clinical evaluation, genetic testing can serve as a useful tool.6
References:
1.Hunter K. The Rett Syndrome Handbook. 2nd ed. IRSA Publishing; 2007. 2. Gold WA, Krishnarajy R, Ellaway C, et al. Rett syndrome: a genetic update and clinical review focusing on comorbidities. ACS Chem Neurosci. 2018;9(2):167-176. 3. Fu C, Armstrong D, Marsh E, et al. Consensus guidelines on managing Rett syndrome across the lifespan. BMJ Paediatr Open. 2020;4(1):e000717. 4. Tarquinio DC, Hou W, Neul JL, et al. The course of awake breathing disturbances across the lifespan in Rett syndrome. Brain Dev. 2018;40(7):515-529. 5. Wong K, Leonard H, Jacoby P, et al. The trajectories of sleep disturbances in Rett syndrome. J Sleep Res. 2015;24:223-233. 6. Neul JL, Fang P, Barrish J, et al. Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome. Neurology. 2008;70(16):1313-1321.