- Fragile X Syndrome News, Research
- Fragile X Syndrome Research Gains Momentum
- Study gives new genetic insight to fragile X syndrome
By now, studies conducted on Fmr1 KO mice demonstrated that the reduction of mGluR5 levels can normalize protein synthesis, dendritic spines, and some behaviour [ 94 ].
Fragile X Syndrome News, Research
Drugs modulating GABA signalling could therefore be an effective therapy. Minocycline is an FDA-approved treatment for acne and is known to have inhibitory effects on matrix metalloproteinase-9 activity. It is currently under study for FXS treatment and seems to have its greatest effect in young children, where it strengthens synaptic connections and enhances cognitive development [ 96 ]. Moreover, specific pharmacological intervention is needed to address common complications, such as epilepsy, metabolic disorders and hypertension.
Going beyond treatment, an important issue to consider in the management of FXS patients is the psychological health of their parents and caregivers; both have to take care of these complicated patients in different ways, and both have been proven to suffer psychological consequences. Mental and physical health problems especially affect families with higher stress levels, and these families often have an impaired ability to manage the difficult behaviours and physical problems of their children. This leads to an increased need for intervention with caregivers at the family level [ 37 ].
On the other hand, caregivers of patients with FXS are more likely to develop comorbidities such as anxiety, depression, stress, and sleep disorders than the caregivers of patients without FXS and are also more likely to receive medications for these conditions [ 97 , 98 ].
Despite the relatively low incidence of FXS, this disease has a significant impact on parents, caregivers and entire society within which the patient lives. The poor social functioning of FXS individuals, together with the need for medication and non-pharmacological intervention, has important consequences in terms of the costs and resources employed. Predictably, the higher functioning employed group of FXS patients also has lower direct healthcare costs [ 98 ].
FXS is a well-known condition; however, most of the studies thus far have focused on its neuropsychiatric features. This review was aimed to provide an extensive overview of both the clinical and molecular features of this syndrome.
Unfortunately, some of the studies cited in this work have limitations, such as the paucity of patients enrolled and the bias due to the collection of data in a single-country population, which may not be representative of the average global FXS population. Most of the studies collected focus on FXS children; however, in recent years, insight into the adult presentation of the disease has progressively increased. Furthermore, only a few studies have been conducted including non-Caucasian populations.
Pharmacological treatment in FXS is essentially symptom based, but the growing understanding of the molecular and biological mechanisms of the disease are paving the way to targeted therapy, which might reverse the effects of FMRP deficiency and be a real cure for the disease itself, not just its symptoms. Martin JP, Bell J. A pedigree of mental defect showing sex-linkage. J Neurol Psychiatry. Lubs HA. A marker X chromosome. Am J Hum Genet. Identification of a gene FMR-1 containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome.
Fragile X Syndrome: diagnosis, treatment and research. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet A. FMR1-related disorders. Gene reviews. Seattle: University of Washington; — Accessed 17 Aug Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis.
Obstet Gynecol. Committee on Genetics. Health supervision for children with fragile X syndrome. Physical characteristics of young boys with fragile X syndrome: reasons for difficulties in making a diagnosis in young males. Am J Med Genet. Craniofacial characteristics of fragile X syndrome in mouse and man. Eur J Hum Genet. A multidisciplinary approach to the management of individuals with fragile X syndrome.
J Intellect Disabil Res. Fragile X syndrome. Epilepsy and EEG findings in males with fragile X syndrome. Genotype, molecular phenotype, and cognitive phenotype: correlations in fragile X syndrome. Psychiatric features in high-functioning adult brothers with fragile X spectrum disorders.
Seizures in fragile X syndrome: characteristics and comorbid diagnoses.
Fragile X Syndrome Research Gains Momentum
Am J Intellect Dev Disabil. Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey. EEG abnormalities and seizures in genetically diagnosed Fragile X syndrome. Int J Dev Neurosci.
Study gives new genetic insight to fragile X syndrome
Cognition and lobar morphology in full mutation boys with fragile X syndrome. Brain Cogn. Analysis of neocortex in three males with the fragile X syndrome. Galvez R, Greenough WT. Sequence of abnormal dendritic spine development in primary somatosensory cortex of a mouse model of the fragile X mental retardation syndrome. Profiles of aberrant white matter microstructure in fragile X syndrome.
Neuroimage Clin. Infant development in fragile X syndrome: cross-syndrome comparisons. J Autism Dev Disord. Arvio M. Fragile-X syndrome-a year follow-up study of male patients. Clin Genet. Association of fragile X syndrome with autism. Fragile X syndrome: psychiatric manifestations, assessment and emerging therapies. Curr Psychiatry Rev. Autism and anxiety in males with fragile X syndrome: an exploratory analysis of neurobehavioral profiles from a parent survey.
Autism symptoms across adulthood in Men with fragile X syndrome: a cross-sectional analysis. The fragile X syndrome-autism comorbidity: What do we really know? Front Genet. DSM-5 changes and the prevalence of parent-reported autism spectrum symptoms in Fragile X syndrome. The emergence and stability of attention deficit hyperactivity disorder in boys with fragile X syndrome.
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The influence of hyperactivity, impulsivity, and attention problems on social functioning in adolescents and young adults with Fragile X syndrome. J Atten Disord. J Neurodev Disord. Characterising repetitive behaviours in young boys with fragile X syndrome. Prevalence, nature, and correlates of sleep problems among children with fragile X syndrome based on a large scale parent survey.
Aggression in fragile X syndrome. Cardiac abnormalities in the fragile X syndrome.
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Br Heart J. Orthopaedic aspects of fragile-X syndrome. J Bone Joint Surg Am. Johns Hopkins Med J. Cardiac autonomic regulation in autism and Fragile X syndrome: a review.