> Disorders > Disease or Syndrome > Fragile X Syndrome

Fragile X Syndrome

Fragile X Syndrome is a genetic condition characterized by intellectual disability, behavioral and learning challenges, and various physical features.
It is caused by a mutation in the FMR1 gene, which leads to a lack of the fragile X mental retardation protein (FMRP).
This protein is crucial for normal brain development and function.
Individuals with Fragile X Syndrome may experience a range of symptoms, including delayed speech and language development, attention deficits, hyperactive behavior, and anxiety.
Early intervention and supportive therapies can help mitigate these challenges and improve the quality of life for those affected.
Reasearchers continue to explore new treatments and strategies to enhance the understanding and management of this complex disorder.

Most cited protocols related to «Fragile X Syndrome»

Autism Assessment Profiles and Diagnoses

The sample included data from 393 different individual participants. Some participants had repeated assessments, yielding a total of 437 cases. Each case was defined by an ADOS and best estimate clinical diagnosis; 29 participants provided data for multiple cases (M=2.52, SD=1.06, range=2–6) based on evaluations conducted at different points in time. The majority of participants (n=319) were research participants and clinic referrals for assessment of possible autism to the University of Chicago Developmental Disorders Clinic (UCDDC), the University of Michigan Autism and Communication Disorders Center (UMACC), or the New York Presbyterian Center for Autism and the Developing Brain (CADB) at Weill-Cornell. Seventy-four participants were evaluated as part of the Simons Simplex Collection (SSC; Fischbach & Lord 2011), a multi-site genetic study. Approximately 80% of the sample was male and 83% Caucasian. Inclusion/Exclusion criteria varied by research study. However, individuals with significant hearing, vision or motor problems that interfered with standardized testing or who were exhibiting active psychosis or uncontrolled seizures at the time of assessment were excluded from each study. Participants in the SSC were also required to meet Collaborative Programs for Excellence in Autism criteria for ASD (see Hus et al., 2013 (link) for details) and were excluded if the individual had a diagnosis of Fragile X syndrome, tuberous sclerosis, Down syndrome or significant early medical history. Additionally, SSC participants could not have any first, second or third degree relatives with ASD or a sibling with substantial language or psychological problems related to ASD. Ages ranged from 9.92 to 62.25 years at the time of assessment (mean=21.56, standard deviation=8.62 years).
Of the 437 cases, 177 had clinical diagnoses of autism (40% of entire sample), 170 Other-ASD (i.e., PDD-NOS or Asperger’s; 39%), and 90 Non-ASD diagnoses (21%). The Non-ASD sample was comprised of both clinical referrals and individuals recruited to research studies as controls. In addition to having first ruled-out an ASD diagnosis, 84% of non-ASD participants received a primary diagnosis of a non-ASD DSM-IV-TR disorder; 30% had a primary diagnosis of mood and/or anxiety disorders, 26% had non-specific intellectual disability, 14% had externalizing behavioral disorders (e.g., ADHD/ODD), 5% had Down syndrome or Fragile X, 4% had language disorders, 1% had Fetal Alcohol syndrome, 1% had Cerebral Palsy and 3% of cases had unspecified difficulties. The remaining 16% of Non-ASD sample did not meet criteria for a DSM-IV-TR diagnosis at the time of assessment; 64% of these individuals (n=9) had had a previous diagnosis of ASD and 36% (n=5) had had a previous Non-ASD diagnosis. There was no significant difference in ADOS totals between the 9 individuals with previous ASD diagnoses and the remaining non-ASD group (data available from authors upon request). Table 1 provides a more detailed sample description.

Hus V, & Lord C. (2014). The Autism Diagnostic Observation Schedule, Module 4: Revised Algorithm and Standardized Severity Scores. Journal of autism and developmental disorders, 44(8), 1996-2012.

Publication 2014

Adenosine Anxiety Disorders Autistic Disorder Behavior Disorders Brain Caucasoid Races Cerebral Palsy Communicative Disorders Developmental Disabilities Diagnosis Disorder, Attention Deficit-Hyperactivity Down Syndrome Fetal Alcohol Syndrome Fragile X Syndrome Intellectual Disability Language Disorders Males Mood Multiple Birth Offspring Psychotic Disorders Seizures Tuberous Sclerosis

Early Intervention for Autism Spectrum Disorder

Participants were recruited through pediatric practices, Birth to Three centers, preschools, hospitals, and state and local autism organizations. Exclusion criteria included (1) a neurodevelopmental disorder of known etiology (eg, fragile X syndrome), (2) significant sensory or motor impairment, (3) major physical problems such as a chronic serious health condition, (4) seizures at time of entry, (5) use of psychoactive medications, (6) history of a serious head injury and/or neurologic disease, (7) alcohol or drug exposure during the prenatal period, and (8) ratio IQ below 35 as measured by mean age equivalence score/chronological age on the visual reception and fine motor subscales of the Mullen Scales of Early Learning (MSEL).¹² Children who developed seizures during the course of the study were not excluded. Inclusion criteria included age below 30 months at entry, meeting criteria for autistic disorder on the Toddler Autism Diagnostic Interview,^{13 (link)} meeting criteria for autism or ASD on the Autism Diagnostic Observation Schedule,¹⁴ and a clinical diagnosis based on Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV) criteria¹⁵ using all available information, residing within 30 minutes of the University of Washington, and willingness to participate in a ≥2-year intervention. At baseline, 18 children in the A/M group and 21 in the ESDM group received a DSM-IV diagnosis of autistic disorder. Six children in the A/M group and 3 in the ESDM group received a diagnosis of PDD NOS. This difference was not significant (Fisher’s exact test, P = .231). The ethnicities involved were Asian (12.5%), white (72.9%), Latino (12.5%), and multiracial (14.6%). The male-to-female ratio reflected the expected ratio in ASD of 3.5:1.
Retention rates were 100% (1-year) and 100% (2-year) for the ESDM group and 96% (1-year) and 88% (2-year) for the A/M group, which yielded a sample size of 24 in the ESDM and 21 in the A/M group at outcome. Figure 1 shows the participant flowchart.

Dawson G., Rogers S., Munson J., Smith M., Winter J., Greenson J., Donaldson A, & Varley J. (2009). Randomized, Controlled Trial of an Intervention for Toddlers With Autism: The Early Start Denver Model. Pediatrics, 125(1), e17-e23.

Publication 2009

Asian Americans Autistic Disorder Child Craniocerebral Trauma Diagnosis Disease, Chronic Ethanol Ethnicity Fragile X Syndrome Latinos Males Nervous System Disorder Pharmaceutical Preparations Physical Examination Psychotropic Drugs Retention (Psychology) Seizures Verbascum Woman

Early Autism Risk Identification in Siblings

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Publication 2013

Asperger Syndrome Autistic Disorder Biopharmaceuticals Child Childbirth Clinical Reasoning Diagnosis Ethics Committees, Research Fragile X Syndrome Hereditary Diseases Infant Oral Cavity Parent Pervasive Development Disorders Population at Risk Recurrence Sibling Systems, Nervous Tuberous Sclerosis

Anxiety in Autism Spectrum Disorders

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Publication 2009

Adolescent Adult Anxiety Disorders Asperger Syndrome Autism Spectrum Disorders Autistic Disorder Child Child, Preschool Developmental Disabilities Diagnosis Fragile X Syndrome Parent Pervasive Development Disorders Syndrome Target Population Youth

Prenatal, Perinatal, and Neonatal Factors Associated with Intellectual Disability

The study was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses criteria (PRISMA) as shown in S1 File. The PubMed and Embase databases were searched using following keywords and subject terms: “intellectual disability”, “mental retardation”, “ID”, “MR” in combination with “prenatal”, “pregnancy”, “obstetric”, “perinatal”, “neonatal”. The last search was updated on September 15, 2015. There was no language restriction. All studies were initially screened by reading the titles and abstracts, and the full-texts of potential studies were independently assessed for eligibility by two reviewers (Jichong Huang and Tingting Zhu), who discussed disagreements to reach a consensus.
To be included in our analysis, the study had to: (1) evaluate the association between prenatal, perinatal, or neonatal factors and risk of ID, (2) have a cohort, case-control, or cross-sectional design, and (3) report odds ratios (ORs) and corresponding 95% confidence intervals (CIs) or other usable data. Studies were excluded if they: (1) did not eliminate the impact of genetic causes (e.g,. trisomy 21 syndrome, Prader-Willi syndrome and fragile X syndrome) on the risk of ID, (2) did not include a control group, or (3) overlapped with another study.

Huang J., Zhu T., Qu Y, & Mu D. (2016). Prenatal, Perinatal and Neonatal Risk Factors for Intellectual Disability: A Systemic Review and Meta-Analysis. PLoS ONE, 11(4), e0153655.

Publication 2016

Down Syndrome Eligibility Determination Fragile X Syndrome Infant, Newborn Intellectual Disability Prader-Willi Syndrome Pregnancy prisma

Most recents protocols related to «Fragile X Syndrome»

Fragile X Syndrome Participant Characterization

A total of 138 participants aged 1–67 years were enrolled in this study (Table 1). The Cincinnati Fragile X Research and Treatment Center recruited participants with Fragile X Syndrome (FXS) (55 male, 22 female), premutation carriers (PMCs) (2 male, 27 female), and typically developing controls (TDCs) (26 male, 6 female). Rush University completed clinical southern blot (SB) and/or polymerase chain reaction (PCR) testing on 105 participants (76 with FXS, 26 PMCs, and 3 TDCs) to confirm diagnosis and to evaluate repeat and/or methylation mosaicism status. Only one out of 77 FXS participants did not have clinical testing at the time of this study. In these tests, 26 of the 76 participants with FXS were classified as repeat and/or methylation mosaics. TDCs were recruited through online advertisement and did not have a history of developmental or neuropsychiatric disorders. All participants or legal guardians gave written or verbal assent. The CCHMC Institutional Review Board approved this project. Human subject work followed all relevant regulations and was in accordance with the Declaration of Helsinki.

Straub D., Schmitt L.M., Boggs A.E., Horn P.S., Dominick K.C., Gross C, & Erickson C.A. (2023). A sensitive and reproducible qRT-PCR assay detects physiological relevant trace levels of FMR1 mRNA in individuals with Fragile X syndrome. Scientific Reports, 13, 3808.

Publication 2023

Blot, Southern Diagnosis Ethics Committees, Research Females Fragile X Syndrome Legal Guardians Males Methylation Mosaicism Polymerase Chain Reaction

Enrollment Criteria for ASD and DLD in Children

The enrollment criteria for children with ASD without GDD: ①met the diagnostic criteria of the Diagnostic and Statistical Manual of Mental Disorders, 5th edition (DSM-5) [28 (link)], and were diagnosed by 2 deputy chief physicians and above specialists. The Autism Diagnostic Observation Schedule, Second Edition (ADOS-2) and Children Neuropsychological and Behavioral Scale-Revision (CNBS-R2016) were conducted by one professional reviewer; ②no more than one functional domain with a Developmental Quotient (DQ) < 70 in the evaluation results of the CNBS-R2016 [29 (link)]. Exclusion criteria: ①Fragile X Syndrome, tuberous sclerosis, cerebral paralysis, epilepsy, schizophrenia, mood disorders, hearing impairment;②abnormal karyotype, appearance deformities, Brain MRI and EEG abnormalities, and other neurological or somatic diseases. The enrollment standard for children with DLD: ①met the diagnostic criteria for DSM-V; ②DQ of language ≤85, DQ of gross motor, fine motor, adaptability, and social behavior ≥70 [30 (link)]. ASD, developmental delay, genetic differences, vision, hearing abnormalities, central nervous system disorders, and second language development disorders were excluded [31 (link)].

Chang X., Sun L, & Li R. (2023). Application of symbolic play test in identification of autism spectrum disorder without global developmental delay and developmental language disorder. BMC Psychiatry, 23, 138.

Publication 2023

Adenosine Autistic Disorder Brain Central Nervous System Diseases Cerebral Palsy Child Congenital Abnormality Diagnosis Diploid Cell Epilepsy Fragile X Syndrome Hearing Impairment Language Development Language Development Disorders Mood Disorders Physicians R2016 Reproduction Schizophrenia Specialists Tuberous Sclerosis Vision

Metabolic and Transcriptomic Profiling of Autism

This study contains three sample sets: metabolome, transcriptome, and validation sets, which were used for ultra-high-performance liquid chromatography mass spectrometry (UHPLC-MS/MS) analysis, RNA sequencing (RNA-seq), and blood uric acid detection, respectively. During 2018–2019, all ASD patients were recruited from the Second Xiangya Hospital of Central South University (Changsha, China), and typically developing (TD) children as healthy controls were recruited from routine physical examinations in general schools in Changsha, China.
The enrollment criteria for all ASD children were as follows: (1) age 3–16 years; (2) met the American Diagnostic and Statistical Manual of Mental Disorders-IV Text Revision (DSM-IV-TR) diagnostic criteria for ASD; and (3) met the classification of ASD by the validated Chinese version of the Autism Diagnostic Interview-Revised (ADI-R) and the Autism Diagnostic Observation Schedule (ADOS). The exclusion criteria for ASD were as follows: (1) serious physical diseases or disabilities, such as congenital heart disease, thyroid disease, diseases with severely abnormal liver or kidney function, and diseases with abnormal vision or hearing; (2) serious neurological disorders, such as traumatic brain injury, encephalitis, epilepsy, hyperthermia, birth injury, and electroencephalography (EEG) abnormalities; (3) known history of genetic disorders or syndromes, such as Down syndrome and Fragile-X syndrome; (4) other neurodevelopmental disorders, such as attention-deficit/hyperactivity disorder, specific learning disorders, and motor disorders; and (5) other severe mental illnesses, such as schizophrenia and bipolar disorder. The enrollment criteria for healthy control included: (1) age 3–16 years; and (2) typically developing children without obvious language, behavioral, and social problems. The exclusion criteria for healthy controls were consistent with those of the ASD group.
The study was approved by the Ethics Committee of the Second Xiangya Hospital of Central South University, with voluntary participation as the principle, to sign an informed consent form after all parents or other legal guardians were informed about the relevant content of this study in detail.

Dai S., Lin J., Hou Y., Luo X., Shen Y, & Ou J. (2023). Purine signaling pathway dysfunction in autism spectrum disorders: Evidence from multiple omics data. Frontiers in Molecular Neuroscience, 16, 1089871.

Publication 2023

Autistic Disorder Bipolar Disorder Birth Injuries BLOOD Child Children's Health Chinese Congenital Abnormality Congenital Heart Defects Diagnosis Disabled Persons Disorder, Attention Deficit-Hyperactivity Down Syndrome Electroencephalography Encephalitis Epilepsy Ethics Committees, Clinical Fever Fragile X Syndrome Hereditary Diseases High-Performance Liquid Chromatographies Kidney Legal Guardians Liver Diseases Mass Spectrometry Mental Disorders Metabolome Motor Disorders Nervous System Disorder Neurodevelopmental Disorders Parent Patients Physical Examination Schizophrenia Specific Learning Disorder Syndrome Thyroid Diseases Transcriptome Traumatic Brain Injury Uric Acid

Developmental Delay and Autism Spectrum Disorder

We designed developmental delay (DD) and typical development (TD) as non-ASD groups. Toddlers with ASD and DD were randomly recruited from the inpatients or outpatients in Child Developmental and Behavioral Center, the Third Affiliated Hospital of Sun Yat-sen University in Guangzhou between April and November 2017. Meanwhile, we recruited toddlers with TD from the nearby community during the same period. Toddlers with ASD (n = 61) were matched on chronological age to toddlers with DD (n = 31) and TD (n = 33), aged 16–30 months. The chronological age of children with ASD was 25.16 (3.71) months, and the sex ratio of men to women was 5.1:1. The chronological age of children with DD was 25.09 (3.68) months, and the sex ratio in this group was 5.2:1. The chronological age of children with TD was 24.73 (3.37) months, and the sex ratio was 5.6:1. There were no significant differences in chronological age and sex ratio among the three groups (all P-values > 0.05).
Toddlers with ASD were included to meet the diagnostic criteria of the diagnostic and statistical manual of mental disorders-the 5th edition (DSM-5) (20 (link)). Exclusionary criteria for toddlers with ASD included the following: (1) symptomatic autism, such as Rett syndrome, Fragile X syndrome, Angelman syndrome, and Prader–Willi syndrome, which were caused by known genetic defects or inherited metabolic diseases; (2) hearing impairment and moderate-to-severe sensory impairment; (3) cerebral palsy and poorly controlled seizures. The diagnosis of ASD in this study required a coincident diagnosis by two clinicians to ensure the quality and validity of the diagnosis.
Inclusion criteria for toddlers with DD included the following: (1) isolated developmental delay (involving single domain); (2) multiple developmental delays—two or more domains or developmental lines affected; (3) global developmental delay (GDD)—significant delay in most of the developmental domains (21 ). Exclusionary criteria for toddlers with DD included the following: (1) physical disabilities; (2) hearing impairment; (3) a history of serious brain diseases at birth, such as hypoxic ischemic encephalopathy and neonatal apoplexy.
Toddlers with TD were assessed by professional staff before the study, which did not have any confirmed or suspected developmental disorders in healthcare facilities. Exclusion criteria for toddlers with TD were as follows: (1) hearing impairment; (2) visual impairment; (3) speech and vocal impairment; (4) motor impairment due to any physical disability.

Zhu F.L., Wang S.H., Liu W.B., Zhu H.L., Li M, & Zou X.B. (2023). A multimodal machine learning system in early screening for toddlers with autism spectrum disorders based on the response to name. Frontiers in Psychiatry, 14, 1039293.

Publication 2023

Angelman Syndrome Autistic Disorder Brain Diseases Cerebral Palsy Cerebrovascular Accident Child Childbirth Congenital Abnormality Developmental Disabilities Diagnosis Disabled Persons Fragile X Syndrome Hearing Impairment Hereditary Diseases Hypoxic-Ischemic Encephalopathy Infant, Newborn Inpatient Low Vision Outpatients Physical Examination Prader-Willi Syndrome Rett Syndrome Seizures Speech Woman

ASD Diagnostic Evaluation in Han Chinese

We enrolled 16 individuals with ASD aged 2 to 7 years from the Chunguang Rehabilitation hospital in Jilin Province, after cases with fragile X syndrome, Rett syndrome, chromosomal abnormalities, or any neurological or psychiatric disorders were excluded. The individuals with ASD were diagnosed by Pediatric Neurology and Neurorehabilitation doctors using the Diagnostic and Statistical Manual of Mental Disorders (5^th edition) [32 ]. All the individuals with ASD were northeast Han Chinese.

Qiu S., Qiu Y., Li Y., Zhu X., Liu Y., Qiao Y., Cheng Y, & Liu Y. (2023). Nexus between genome-wide copy number variations and autism spectrum disorder in Northeast Han Chinese population. BMC Psychiatry, 23, 96.

Publication 2023

Chinese Chromosome Aberrations Fragile X Syndrome Mental Disorders Neurological Rehabilitation Physicians Rett Syndrome

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More about "Fragile X Syndrome"

Fragile X Syndrome (FXS) is a genetic disorder characterized by intellectual disability, behavioral challenges, and distinctive physical features.
It is caused by a mutation in the FMR1 gene, which leads to a lack of the fragile X mental retardation protein (FMRP).
This crucial protein is essential for normal brain development and function.
Individuals with FXS may experience delayed speech and language skills, attention deficits, hyperactive behavior, and anxiety.
Early intervention and supportive therapies, such as speech and occupational therapy, can help mitigate these challenges and improve the quality of life for those affected.
Researchers continue to explore new treatments and strategies to enhance the understanding and management of this complex disorder.
Genetic testing, including the use of FVB.129P2-Pde6b+ Tyrc-ch/AntJ and FVB.129P2-Pde6b+ Tyrc-ch Fmr1tm1Cgr/J mouse models, can aid in the diagnosis and study of FXS.
The GenElute Mammalian Genomic DNA Miniprep Kit, E2730, and 1M single or duo arrays can be utilized for DNA extraction and analysis.
Statistical software like SPSS Statistics version 22 can help researchers analyze data from Fragile X Syndrome studies.
Additionally, cell culture techniques, such as the use of tissue culture dishes and FBS, L-glutamine supplements, can contribute to the development of new treatment approaches.
PubCompare.ai, an AI-driven platform, can optimize Fragile X Syndrome research by helping researchers effortlessly locate relevant protocols from literature, pre-prints, and patents, while leveraging AI-powered comparisons to identify the best protocols and products.
This innovative tool can enhance the reproducibility and accuracy of Fragile X Syndrome studies, empowering researchers to make more informed decisions and advance the understanding of this complex disorder.