Parent-Infant fragile x Intervention (PIXI) for FRAXA Syndrome

This patient with a rare but severe constellation of features suggests a need for increased awareness of the condition which may be difficult to diagnose given its clinically variable and clinically non-specific presentation. Our patient illustrates the need for collaborative efforts and continued research to improve the accuracy and understanding of the condition.

Treatment for fraxa syndrome are multidisciplinary and includes a multidisciplinary team of clinicians with expertise in neuropsychiatry, neurology, endocrinology, psychology, rehabilitation, occupational therapy and physical and nutritional medicine. All assessments are used to guide the management of the patient. This may include assessments to identify and monitor the course of any comorbid medical or psychiatric issues, and in particular to identify and monitor the course of hypothyroidism. The patient should also be evaluated and maintained on a strict diet of adequate amounts of protein, carbohydrate, fats and minerals, and in particular dietary supplements. All of these interventions are crucial to the management of fraxa syndrome, so that patients’ health is furthered.

Fraxa syndrome cannot be cured. However, symptoms associated with fraxa syndrome can be greatly diminished by taking NSAIDS and other painkillers on a continual basis as suggested in the treatment regimes.

Fraxa syndrome is a rare disorder characterized by a wide spectrum of clinical features resulting from mutations in the protein p63. In all cases, the clinical features are consistent with the diagnostic criteria, and a mutation in the gene encoding p63 is identified in 50% of cases. The differential diagnoses include Aicardi-Goutières syndrome, Treacher-Collins syndrome, and other syndromes, but some have reported the absence of mutation in the gene encoding p63 in these other conditions. In addition to identifying mutations in p63, we report a novel allele in the gene causing autosomal recessive hypogonadism. Thus the condition has additional features, including the first known mutation in the gene encoding p63.

around 12,200 people a year receive a diagnosis for fraxa syndrome. Around 9000 of them die as a result of fraxa syndrome. The remaining 7000 die of other causes. This makes fraxa one of the most frequent causes of death in the UK and Ireland.

For patients presenting with fraxa syndrome a referral to a neurologist is highly recommended and a number of causes should be considered before diagnosing individuals with the syndrome. The diagnostic work-up should always include MRI, electroencephalography and an evaluation of peripheral neuropathy to aid in diagnosing this syndrome.

Pixi appears to be an effective intervention, with improvement in maternal behavior and child cognition being maintained at follow-up. Pixi appears to be a cost-effective intervention given the low per-patient cost of Pixi, while limiting the potential for harm (e.g., drug exposure).

This paper adds a new therapeutic strategy to (pixi), which is aimed to reduce the psychiatric and behavioral symptoms of fragile x syndrome as well as its consequences and associated difficulties. Pixi could be used as a therapeutic treatment strategy in order to treat the whole family (i.e., family members with FXS and parents of FXS-affected infants) as well as to treat the infants’ emotional problems (i.e., the infants’ parents or guardians).

Parents of infants with fragile X often experience high levels of tension, shamefulness, and guilt, and many parents opt not to seek professional advice because of these emotions. Pixi is a comprehensive one-hour intervention (delivered by a specially trained therapist with expertise in fragile X counseling and an experience in family interventions) that teaches the skills necessary to effectively assist parents coping with stress. Pixi is offered in 15 child development centers throughout the United States. Programs in the Department of Psychiatry, Stanford University, Stanford, CA; the Center for Development and Psychopathology, University of California, Los Angeles, Los Angeles, CA.

This was a retrospective study that analyzed small numbers of infant boys diagnosed with fragile X. It found that the pixi intervention was effective. However, more boys and a control group are needed to demonstrate the reliability of this intervention. Further evaluations are needed of the impact of other treatment elements for fragile X.

While further studies are needed to clarify the cause of fraxa syndrome, we believe it should be considered to be a different clinical syndrome for which primary treatments may be effective, as a manifestation of a primary systemic inflammatory response syndrome (PIRS) due to infection.