Much clinical research has been devoted to the impact of a rare disease diagnosis on a pediatric patient’s parents or caregivers. The general consensus is that a rare, chronic illness in a child significantly contributes to psychological distress, spanning worries about the long-term costs of treatment to the possibility of shortened survival. 

There is a notable gap in the medical literature regarding the experiences of pediatric patients themselves. Why is this the case? Perhaps there is an underlying assumption that children cannot offer consent for meaningful interviews about their condition, or worse, that their views simply do not matter. 

Much of the medical literature on young children living with a rare disease is focused on the physical manifestations of the disorder: a depressed growth rate, a lack of mental acuity compared to their peers, and missed school days due to symptomatic disease/treatment. However, these facts still do not elucidate the core question of how a diagnosis of a rare disease impacts their overall mental well-being. 

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It is terrible if pediatric patients feel that we as physicians constantly talk above their heads, that consultations are strictly between physicians and parents, and that the patient is simply a spectator who is occasionally asked questions about disease symptoms. This is a far cry from what inclusive medicine should look like—every patient, no matter how young, has the right to feel seen and heard. 

Behavior of Children With SMA 

Spinal muscular atrophy (SMA) is a classic rare disease of childhood in the sense that it manifests early in life, and patients are usually diagnosed with this condition before adolescence. It is also the most common genetic motor neuron disease in children that gets progressively worse over time. At some point in life, most patients lose their ability to ambulate. 

Read more about SMA etiology 

The loss of muscular strength during a period of life characterized by outdoor play and fun is undoubtedly a devastating setback. This is further amplified in poorer countries that lack the facilities to test for and treat this condition; it is sometimes simply dismissed as a psychosomatic disorder that patients can somehow “snap out” of. 

As mentioned earlier, Panda and colleagues pointed out a significant gap in the medical literature surrounding children suffering from a rare disease: “None of the studies [on children and adolescents with SMA] have objectively evaluated the behavioral abnormalities in children younger than 5 years with SMA.” 

They hence conducted a study to understand further the psychological and behavioral impact of SMA on young patients with this condition. They recruited participants between the ages of 3 months and 5 years who were genetically proven to have either SMA types 1, 2, or 3 (n=35). Healthy individuals were recruited for the control. 

The research team carefully analyzed the clinical data from the recruited participants and conducted detailed physical and neurological evaluations. In addition, they assessed the development/cognitive abilities of the participants. They also detailedly analyzed any behavioral problems and extremes in temperament. 

For this article, we will primarily focus on the psychological/behavioral aspects of living with SMA. The findings of this study indicate that pediatric patients diagnosed with SMA have a greater likelihood of suffering from anxiety, depression, and stress compared to healthy children and also children with other chronic systemic illnesses. In addition, children most psychologically affected by a diagnosis of SMA tend to demonstrate worrying behavioral profiles. 

The main challenges of living with SMA seem to stem from 2 main factors: postural problems and difficulties in ambulating. Nevertheless, modern SMA therapeutics offer a glimmer of hope. Nusinersen has been found to provide symptomatic relief and produces a positive knock-off effect on an individual’s emotional disposition. In addition, improved rehabilitation techniques and protocols have blunted the devastation of a SMA diagnosis. 

However, because SMA is an incurable, progressive disorder, little can be done to escape the eventual deterioration in clinical condition, drastically worsening mental health outcomes. This is especially the case when the respiratory and digestive system become involved and no longer function optimally. 

“They experience emotional difficulties, fatigue, and a perceived lack of societal support, and unfortunately, there is no systematic recommendation to address the emotional, behavioral, and psychological problems of SMA patients and their family members at various stages of life,” Panda and colleagues wrote. 

This sense of things falling apart is made all the more obvious if a patient has a healthy sibling; in these cases, patients feel more acutely a sense of things slipping away, of life contracting instead of expanding. As the challenges associated with SMA accumulate, patients and their caregivers respond in their way, similar to how the grieving process differs for each individual. 

Read more about SMA treatment 

So what can be done to support children with SMA and their families and caregivers? An obvious place to start is to conduct further studies to understand the psychological impact of a chronic illness on very young individuals. Second, psychological support must be offered to everyone affected; this may come as talking therapies or social support. 

It is a great injustice that children who have barely learned to read need to devote as much time to their healthcare as their studies or interactions with friends. Nonetheless, the entire thrust of medical advancements is to make things easier for the most vulnerable among us. With grit and determination, we can strive towards giving ill children the full participation they deserve in childhood. 


Panda PK, Ramachandran A, Verma PK, Sharawat IK. Behavioral problems in infants and young children with spinal muscular atrophy and their siblings: a cross-sectional studyEur J Paediatr Neurol. Published online December 19, 2022. doi:10.1016/j.ejpn.2022.12.006

Day JW, Howell K, Place A, et al. Advances and limitations for the treatment of spinal muscular atrophyBMC Pediatr. Published online November 3, 2022. doi:10.1186/s12887-022-03671-x