Spinal muscular atrophy and anorexia nervosa: a case report.

BACKGROUND: Spinal muscular atrophy (SMA) is an autosomal recessive condition affecting lower motor neurons causing progressive muscle atrophy. Anorexia nervosa (AN) is a psychiatric disorder characterised by intense fear of weight gain, restriction of energy intake, and preoccupation with body weight and shape. Low weight, gastrointestinal dysmotility, and respiratory infections are common in SMA but may mask AN. No paediatric cases of AN in SMA have been reported to date. CASE PRESENTATION: A 14-year-old female with SMA2 presented with 12 months of declining body weight to a nadir of 24.8 kg (BMI 11). This was initially attributed to medical complications including pneumonia and gastroenteritis, and chronic gut dysmotility associated with SMA. Despite almost 2 years of dietetic input and nutritional supplementation due to the weight plateauing from age 11, no significant restoration or gain was achieved. The Eating Disorder Examination-Questionnaire (EDE-Q) indicated a possible eating disorder and psychiatric evaluation confirmed AN. Initial management prioritised close medical monitoring and outpatient weight restoration on an oral meal plan. Skin fold anthropometric measurement was conducted to determine a minimum healthy weight. Individual psychological therapy and family sessions were undertaken. The patient developed major depression and a brief relapse with weight loss to 28 kg. Since then, the patient has maintained a weight of around 35 kg with stable mood. CONCLUSIONS: Low body weight, feeding issues, gastrointestinal dysmotility, and respiratory infections are common in SMA and diagnostic overshadowing can lead to delayed recognition of anorexia nervosa. Change to growth trajectory and prolonged weight loss should prompt consideration of comorbid psychiatric issues. Screening measures such as the EDE-Q and DASS may be helpful in this population. Close liaison between the neurogenetics and psychiatry teams is helpful. Skin fold anthropometry can assist in identifying a minimum healthy weight range.

Does continuing family-based treatment for adolescent anorexia nervosa improve outcomes in those not remitted after 20 sessions?

OBJECTIVE: Our aim was to investigate the benefit of ongoing family-based treatment (FBT) sessions for adolescent anorexia nervosa if remission criteria were not met at session 20. METHOD: Participants were 69 medically unstable adolescents with Diagnostic and Statistical Manual of Mental Disorders (4th ed; DSM-IV) anorexia nervosa from a randomized controlled trial investigating length of hospital admission prior to outpatient FBT. Participants were divided post hoc into those meeting remission criteria at session 20 ( n = 16), those that had not remitted but continued with FBT ( n = 39) and those who ceased FBT undertaking alternative treatments ( n = 14). Outcome was assessed as remission and hospital readmission days at 12 months after FBT session 20. RESULTS: There were no differences between groups at baseline. There was a significant difference in the use of hospital admission days with those in the Alternate Treatment Group who did not continue with FBT using 71.93 days compared to those in Additional FBT Group with only 12.51 days ( F(2, 66) = 13.239, p < .01). At 12 months after FBT session 20, the Additional FBT Group had a 28.2% increase in remission rate, significantly higher than those in the Alternate Treatment Group (χ2(2) = 17.68, p < .001). DISCUSSION: Continuing FBT after session 20 if remission is not achieved can significantly reduce hospital readmission days and improve remission rates.