ABSTRACT
Boys with fragile X syndrome (FXS), the leading known genetic cause of autism spectrum disorder (ASD), demonstrate significant impairments in social gaze and associated weaknesses in communication, social interaction, and other areas of adaptive functioning. Little is known, however, concerning the impact of behavioral treatments for these behaviors on functional brain connectivity in this population. As part of a larger study, boys with FXS (mean age 13.23 ± 2.31 years) and comparison boys with ASD (mean age 12.15 ± 2.76 years) received resting-state functional magnetic resonance imaging scans prior to and following social gaze training administered by a trained behavior therapist in our laboratory. Network-agnostic connectome-based predictive modeling of pretreatment resting-state functional connectivity data revealed a set of positive (FXS > ASD) and negative (FXS < ASD) edges that differentiated the groups significantly and consistently across all folds of cross-validation. Following administration of the brief training, the FXS and ASD groups demonstrated reorganization of connectivity differences. The divergence in the spatial pattern of reorganization response, based on functional connectivity differences pretreatment, suggests a unique pattern of response to treatment in the FXS and ASD groups. These results provide further support for implementing targeted behavioral treatments to ameliorate syndrome-specific behavioral features in FXS.
Subject(s)
Autism Spectrum Disorder , Fragile X Syndrome , Male , Humans , Child , Adolescent , Brain , CommunicationABSTRACT
BACKGROUND: Cache Valley virus (CVV) is a mosquito-borne virus that is a rare cause of disease in humans. In the fall of 2020, a patient developed encephalitis 6 weeks following kidney transplantation and receipt of multiple blood transfusions. METHODS: After ruling out more common etiologies, metagenomic next-generation sequencing (mNGS) of cerebrospinal fluid (CSF) was performed. We reviewed the medical histories of the index kidney recipient, organ donor, and recipients of other organs from the same donor and conducted a blood traceback investigation to evaluate blood transfusion as a possible source of infection in the kidney recipient. We tested patient specimens using reverse-transcription polymerase chain reaction (RT-PCR), the plaque reduction neutralization test, cell culture, and whole-genome sequencing. RESULTS: CVV was detected in CSF from the index patient by mNGS, and this result was confirmed by RT-PCR, viral culture, and additional whole-genome sequencing. The organ donor and other organ recipients had no evidence of infection with CVV by molecular or serologic testing. Neutralizing antibodies against CVV were detected in serum from a donor of red blood cells received by the index patient immediately prior to transplant. CVV neutralizing antibodies were also detected in serum from a patient who received the co-component plasma from the same blood donation. CONCLUSIONS: Our investigation demonstrates probable CVV transmission through blood transfusion. Clinicians should consider arboviral infections in unexplained meningoencephalitis after blood transfusion or organ transplantation. The use of mNGS might facilitate detection of rare, unexpected infections, particularly in immunocompromised patients.
Subject(s)
Bunyamwera virus , Kidney Transplantation , Meningoencephalitis , Humans , Antibodies, Neutralizing , Blood Transfusion , Kidney Transplantation/adverse effects , Meningoencephalitis/diagnosisABSTRACT
BACKGROUND: Sexual assault survivors are at increased risk for sexually transmitted infections. Sexual Assault Nurse Examiner programs guide sexually transmitted infection treatment, monitoring, and follow-up scheduling according to guidelines by the Centers for Disease Control and Prevention (CDC). Reported low rates of provider adherence to CDC treatment guidelines and patient adherence to follow-up necessitate a review of medication prescribing and follow-up scheduling practices, especially at smaller community hospitals in the United States. METHODS: A retrospective medical record review was conducted to assess adherence rates to CDC guidelines for prescribing practices, scheduling, and follow-up of sexual assault survivors. We included pediatric and adult patients presenting to the emergency department (ED) and participating in the ED Sexual Assault Nurse Examiner program at a rural, community-based teaching hospital in La Crosse, WI, from January 2018 to December 2021. Descriptive statistics were used to evaluate results. RESULTS: Analysis included 103 patients. Prescribing adherence to CDC guidelines was >80% for all except human immunodeficiency virus (53.4%), trichomoniasis (68.1%), and hepatitis B (69%). Of the 38 patients who had a follow-up scheduled during their ED encounter, 78.9% attended their scheduled follow-up and 94.7% of those appointments were scheduled within the CDC-recommended time frame, leading to an overall adherence of 40%. CONCLUSIONS: Adherence rates were high for most prescribing practices, and attendance of scheduled follow-up was higher than expected. Opportunities to improved adherence to CDC guidelines were identified in prescribing for 3 disease states (human immunodeficiency virus, trichomoniasis, and hepatitis B) and in scheduling of follow-up.
Subject(s)
Hepatitis B , Sex Offenses , Sexually Transmitted Diseases , Trichomonas Infections , Adult , Humans , Child , United States/epidemiology , Retrospective Studies , Sexually Transmitted Diseases/drug therapy , Sexually Transmitted Diseases/prevention & control , Emergency Service, Hospital , HIV , Centers for Disease Control and Prevention, U.S. , Observational Studies as TopicABSTRACT
The effectiveness of bebtelovimab in real-world settings has not been assessed. In this retrospective cohort study of 3607 high-risk patients, bebtelovimab was used more commonly than nirmatrelvir-ritonavir for treatment of coronavirus disease 2019 (COVID-19) among older patients, immunosuppressed patients, and those with multiple comorbid conditions. Despite its use in patients with multiple comorbid conditions, the rate of progression to severe disease after bebtelovimab (1.4% [95% confidence interval, 1.2%-1.7%]) was not significantly different from that for nirmatrelvir-ritonavir treatment (1.2% [.8%-1.5%]). Our findings support the emergency use authorization of bebtelovimab for treatment of COVID-19 during the Omicron epoch dominated by BA.2 and subvariants.
Subject(s)
COVID-19 Drug Treatment , SARS-CoV-2 , Humans , Ritonavir/therapeutic use , Retrospective StudiesABSTRACT
BACKGROUND: Ketorolac is an effective analgesic but the potential for acute kidney injury (AKI) is concerning, particularly in geriatric "G-60 trauma" patients. The objectives of this study are to report the incidence of AKI in patients who receive ketorolac, identify risk factors for AKI, and develop a risk factor-guided algorithm for safe utilization. METHODS: This retrospective cohort study included trauma patients age 60 years and older who received intravenous ketorolac. The primary endpoint was the incidence of AKI. RESULTS: Among 316 patients evaluated, the incidence of AKI was 2.5%. Patients with AKI received more nephrotoxins, had more comorbidities, and higher use of loop diuretics or vasopressors. Loop diuretic therapy and number of comorbidities were independent predictors of AKI. CONCLUSIONS: Risk for AKI with ketorolac was low, being more prevalent with comorbidities or receipt of loop diuretics.
Subject(s)
Acute Kidney Injury , Ketorolac , Acute Kidney Injury/chemically induced , Acute Kidney Injury/epidemiology , Aged , Humans , Incidence , Ketorolac/adverse effects , Middle Aged , Retrospective Studies , Risk FactorsABSTRACT
ABSTRACT: The use of diced cartilage grafting is a powerful tool during rhinoplasty for dorsal augmentation; however, its application to nasal structural reconstruction has rarely been reported. Here we present a unique technique for Mohs defect reconstruction combining diced cartilage graft for dorsal augmentation and a folded paramedian forehead flap for soft tissue. A 54-year-old female presented with recurrent basal cell carcinoma of the nose that had been previously resected 3 times in the past. This was treated with Mohs surgery resulting in a through and through nasal defect. This was reconstructed with a staged folded paramedian forehead flap with staged. Due to a loss of dorsal volume and definition creating an excess supratip break, a diced cartilage graft with fibrin glue and temporalis fascia was used for dorsal augmentation. The use of diced cartilage has regained popularity over the last 2 decades with multiple techniques utilizing diced cartilage alone, wrapped in fascia, covered in fascia, wrapped in oxidized methylcellulose, or solidified with fibrin glue. Literature describing the use of fibrin glue suggests that it improves wound healing by promoting cartilage growth, stabilization, and diffusion of nutrients to the graft. Its malleable nature allows for adjustments after the initial placement. This report demonstrates the viability of diced cartilage graft for dorsal augmentation with a paramedian forehead flap for nasal reconstruction. This technique can serve as a powerful tool for the nasal reconstructive surgeon needing scaffolding to rebuild and define the nasal dorsum.
Subject(s)
Fibrin Tissue Adhesive , Rhinoplasty , Cartilage/transplantation , Female , Forehead/surgery , Humans , Middle Aged , Nose/surgeryABSTRACT
PURPOSE: The objective of this study was to compare the incidence of acute kidney injury (AKI) among critically ill patients receiving combination therapy with vancomycin plus piperacillin-tazobactam (VPT) against patients receiving vancomycin plus cefepime (VC). METHODS: A retrospective cohort study of adult patients admitted to an intensive care unit between September 2012 and December 2016 was conducted. Patients were included if they received combination therapy with VPT or VC for ≥48 hours. Patients were excluded if creatinine clearance was <60 mL/min or received renal replacement therapy prior to the initiation of therapy. The primary end point was AKI, as defined by the Acute Kidney Injury Network classification, during or within 48 hours of completion of therapy. The incidence of AKI was compared between groups and multivariate analysis was performed to control for relevant confounders. RESULTS: A total of 394 patients received either VPT (n = 258) or VC (n = 136). There were no differences in baseline serum creatinine (0.8 [0.3]mg/dL vs 0.7 [0.3] mg/dL, P = 0.207), use of vasopressors (44% vs 38%, P = 0.255), mechanical ventilation (45% vs 40%, P = 0.350), or initial vancomycin trough (11.2 [5] mg/L vs 11 [4.8] mg/L, P = 0.668) between VPT and VC groups, respectively. The incidence of AKI was 28.7% for VPT patients versus 21.3% for VC patients (P = 0.114). Multivariate analysis revealed vancomycin trough >20 mg/L (odds ratio, OR [95% confidence interval, CI] = 2.69 [1.62-4.47]), baseline SCr (OR [95% CI] = 3.34 [1.43-7.80]), vasopressors (OR [95% CI] = 1.77 [1.04-3.04]), and duration of combination therapy (OR [95% CI] = 1.009 [1.003-1.015]) as independent risk factors for AKI. CONCLUSION: The risk of AKI was similar between VPT and VC groups in critically ill patients. Risk factors for AKI were related to baseline renal function, duration of combination therapy, supratherapeutic vancomycin troughs, and severity of illness.
Subject(s)
Acute Kidney Injury , Critical Illness , Vancomycin , Acute Kidney Injury/chemically induced , Adult , Anti-Bacterial Agents/therapeutic use , Cefepime/administration & dosage , Cefepime/adverse effects , Drug Therapy, Combination , Humans , Piperacillin, Tazobactam Drug Combination/administration & dosage , Piperacillin, Tazobactam Drug Combination/adverse effects , Retrospective Studies , Vancomycin/administration & dosage , Vancomycin/adverse effectsABSTRACT
BACKGROUND/OBJECTIVE: Desmopressin (DDAVP) has been suggested for antiplatelet medication reversal in patients with traumatic brain injury (TBI) but there are limited data describing its effect on clinical outcomes. The purpose of this study was to evaluate the effect of DDAVP on hematoma expansion and thrombosis in patients with TBI who were prescribed pre-injury antiplatelet medications. METHODS: Consecutive adult patients who were admitted to our level I trauma center and prescribed pre-injury antiplatelet medications between July, 2012, and May, 2018, were retrospectively identified. Patients were excluded if their hospital length of stay was < 24 h, if DDAVP was administered by any route other than intravenous, if they received a DDAVP dose < 0.3 mcg/kg or there was no evidence of brain hemorrhage on computed tomography (CT) scan. Patients were stratified based on the use of DDAVP, and the incidence of hematoma expansion was compared between groups. Thrombotic events were reviewed as a secondary outcome. Multivariate analysis was utilized to control for confounding variables. RESULTS: Of 202 patients included in analysis, 158 (78%) received DDAVP. The mean age was 76 ± 12 years; the most common injury mechanism was falls (76%); 69% had acute subdural hematoma, and 49% had multi-compartmental hemorrhage. Initial Glasgow coma score was between 13 and 15 for 91% of patients. Aspirin was the most common antiplatelet regimen prescribed (N = 151, 75%), followed by dual antiplatelet regimens (N = 26, 13%) and adenosine diphosphate (ADP)-receptor inhibitors (N = 25, 12%). The incidence of hematoma expansion was 14% and 30% for patients who did and did not receive DDAVP, respectively (p = 0.015). After controlling for age, injury severity score, multi-compartmental hemorrhage, and receipt of pre-injury high-dose aspirin (> 81 mg), ADP-receptor inhibitors, oral anticoagulants, prothrombin complex concentrates or platelets in a multivariate analysis, the association between DDAVP and hematoma expansion remained significant (adjusted OR 0.259 [95% CI 0.103-0.646], p = 0.004). Thrombotic events were similar between the two groups (DDAVP, 2.5%, no DDAVP, 4.5%; p = 0.613). CONCLUSIONS: DDAVP was associated with a lower incidence of hematoma expansion in patients with mild TBI who were prescribed pre-injury antiplatelet medications. These results justify a randomized controlled trial to further evaluate the role of DDAVP for this indication.
Subject(s)
Brain Concussion , Deamino Arginine Vasopressin , Adult , Deamino Arginine Vasopressin/adverse effects , Hematoma , Humans , Platelet Aggregation Inhibitors/adverse effects , Retrospective StudiesABSTRACT
4-Factor Prothrombin Complex Concentrate (4F-PCC) is the standard-of-care intervention in patients with major bleeding taking oral vitamin K antagonists. Despite growing clinical experience with 4-FPCC, the optimal dosing strategy remains unclear. In balancing efficacy, safety, and cost of this treatment, many institutions have adopted a low, fixed-dose regimen, with average doses lower than that in the package insert. The fixed-dose 4F-PCC strategy is supported by the available observational studies and case reports; however, the current body of literature is highly heterogenous. The purpose of this narrative review is to address the advantages and shortcomings with clinical use of fixed-dose 4F-PCC, as well as limitations of the available literature. The heterogeneity of the current literature should guide future studies to support or refute this potentially life-saving intervention.
Subject(s)
Blood Coagulation Factors/therapeutic use , Hemorrhage/drug therapy , Blood Coagulation Factors/administration & dosage , Hemostatics/therapeutic use , Humans , Vitamin K/antagonists & inhibitorsABSTRACT
Few studies have investigated developmental strengths and weaknesses within the cognitive profile of children and adolescents with fragile X syndrome (FXS), a single-gene cause of inherited intellectual impairment. With a prospective longitudinal design and using normalized raw scores (Z scores) to circumvent floor effects, we measured cognitive functioning of 184 children and adolescents with FXS (ages 6 to 16) using the Wechsler Scale of Intelligence for Children on one to three occasions for each participant. Participants with FXS received lower raw scores relative to the Wechsler Scale of Intelligence for Children normative sample across the developmental period. Verbal comprehension, perceptual organization, and processing speed Z scores were marked by a widening gap from the normative sample, while freedom from distractibility Z scores showed a narrowing gap. Key findings include a relative strength for verbal skills in comparison with visuospatial-constructive skills arising in adolescence and a discrepancy between working memory (weakness) and processing speed (strength) in childhood that diminishes in adolescence. Results suggest that the cognitive profile associated with FXS develops dynamically from childhood to adolescence. Findings are discussed within the context of aberrant brain morphology in childhood and maturation in adolescence. We argue that assessing disorder-specific cognitive developmental profiles will benefit future disorder-specific treatment research.
Subject(s)
Adolescent Development/physiology , Child Development/physiology , Cognition/physiology , Fragile X Syndrome/psychology , Intelligence/physiology , Adolescent , Child , Cognition Disorders/psychology , Comprehension/physiology , Female , Humans , Male , Memory, Short-Term/physiology , Neuropsychological Tests , Prospective Studies , Wechsler ScalesABSTRACT
Individuals with Prader-Willi syndrome (PWS), a genetic disorder caused by mutations to the q11-13 region on chromosome 15, commonly show severe skin-picking behaviors that can cause open wounds and sores on the body. To our knowledge, however, no studies have examined the potential neural mechanisms underlying these behaviors. Seventeen individuals with PWS, aged 6-25 years, who showed severe skin-picking behaviors, were recruited and scanned on a 3T scanner. We used functional magnetic resonance imaging (fMRI) while episodes of skin picking were recorded on an MRI-safe video camera. Three participants displayed skin picking continuously throughout the scan, three participants did not display skin picking, and the data for one participant evidenced significant B0 inhomogeneity that could not be corrected. The data for the remaining 10 participants (six male, four female) who displayed a sufficient number of picking and nonpicking episodes were subjected to fMRI analysis. Results showed that regions involved in interoceptive, motor, attention, and somatosensory processing were activated during episodes of skin-picking behavior compared with nonpicking episodes. Scores obtained on the Self-Injury Trauma scale were significantly negatively correlated with mean activation within the right insula and left precentral gyrus. These data indicate that itch and pain processes appear to underlie skin-picking behaviors in PWS, suggesting that interoceptive disturbance may contribute to the severity and maintenance of abnormal skin-picking behaviors in PWS. Implications for treatments are discussed.
Subject(s)
Prader-Willi Syndrome/physiopathology , Self-Injurious Behavior/physiopathology , Adolescent , Adult , Attention , Brain Mapping , Child , Compulsive Behavior , Female , Head Movements , Humans , Magnetic Resonance Imaging , Male , Movement , Neuroimaging , Prader-Willi Syndrome/genetics , Prader-Willi Syndrome/psychology , Self-Injurious Behavior/psychology , Sensation , Skin , Young AdultABSTRACT
BACKGROUND: Fragile-X syndrome (FXS) is a neurodevelopmental disorder associated with intellectual disability and neurobiological abnormalities including white matter microstructural differences. White matter differences have been found relative to neurotypical individuals. AIMS: To examine whether FXS white matter differences are related specifically to FXS or more generally to the presence of intellectual disability. METHOD: We used voxel-based and tract-based analytic approaches to compare individuals with FXS (n = 40) with gender- and IQ-matched controls (n = 30). RESULTS: Individuals with FXS had increased fractional anisotropy and decreased radial diffusivity values compared with IQ-matched controls in the inferior longitudinal, inferior fronto-occipital and uncinate fasciculi. CONCLUSIONS: The genetic variation associated with FXS affects white matter microstructure independently of overall IQ. White matter differences, found in FXS relative to IQ-matched controls, are distinct from reported differences relative to neurotypical controls. This underscores the need to consider cognitive ability differences when investigating white matter microstructure in neurodevelopmental disorders.
Subject(s)
Brain Diseases/pathology , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/pathology , White Matter/pathology , Analysis of Variance , Anisotropy , Case-Control Studies , Diffusion Tensor Imaging , Female , Fragile X Syndrome/genetics , Humans , Intelligence/genetics , Male , Phenotype , Prospective Studies , Young AdultABSTRACT
A hallmark behavioral feature of fragile X syndrome (FXS) is the propensity for individuals with the syndrome to exhibit significant impairments in social gaze during interactions with others. However, previous studies employing eye tracking methodology to investigate this phenomenon have been limited to presenting static photographs or videos of social interactions rather than employing a real-life social partner. To improve upon previous studies, we used a customized eye tracking configuration to quantify the social gaze of 51 individuals with FXS and 19 controls, aged 14-28 years, while they engaged in a naturalistic face-to-face social interaction with a female experimenter. Importantly, our control group was matched to the FXS group on age, developmental functioning, and degree of autistic symptomatology. Results showed that participants with FXS spent significantly less time looking at the face and had shorter episodes (and longer inter-episodes) of social gaze than controls. Regression analyses indicated that communication ability predicted higher levels of social gaze in individuals with FXS, but not in controls. Conversely, degree of autistic symptoms predicted lower levels of social gaze in controls, but not in individuals with FXS. Taken together, these data indicate that naturalistic social gaze in FXS can be measured objectively using existing eye tracking technology during face-to-face social interactions. Given that impairments in social gaze were specific to FXS, this paradigm could be employed as an objective and ecologically valid outcome measure in ongoing Phase II/Phase III clinical trials of FXS-specific interventions.
Subject(s)
Eye Movement Measurements/instrumentation , Fragile X Syndrome/psychology , Social Skills , Adolescent , Adult , Autistic Disorder/psychology , Case-Control Studies , Female , Humans , Longitudinal Studies , Male , Young AdultABSTRACT
The chronic (21- and 28-day) toxicity of boron was determined for two freshwater benthic macroinvertebrates: the fatmucket mussel Lampsilis siliquoidea and the aquatic worm Lumbriculus variegatus. The rapid depletion of boric acid from spiked sediments in tests using flow-through overlying waters was addressed by constant addition of boric acid to overlying water at concentrations matching those of the targeted porewater exposures. This proved highly successful in maintaining constant whole-sediment and sediment porewater boron concentrations. Boron sublethal 25 % inhibition concentration values based on porewater concentrations were 25.9 mg B/L (L. variegatus) and 38.5 mg B/L (L. siliquoidea), indicating similar test organism sensitivity. Expressed as dry whole-sediment values, the respective L. variegatus and L. siliquoidea sublethal (growth) IC25 values for whole-sediment exposures were 235.5 mg B/kg sediment dry weight (dw) and 310.6 mg B/kg dw. The worm lethality-based end points indicated greater sensitivity than the sublethal end points, bringing into question the validity of a "lethality" end point for L. variegatus given its fragmentation mode of reproduction. For comparison, water-only mussel exposures were tested resulting in an IC25 value of 34.6 mg B/L, which was within 20 % of the porewater value. This suggests that the primary route of boron exposure was through the aqueous phase. The results of this study indicated that for test materials that are readily water soluble, standard sediment test designs may be unsuitable, but water-only exposures can provide toxicological data representative of sediment tests.
Subject(s)
Boron/toxicity , Toxicity Tests, Chronic/methods , Water Pollutants, Chemical/toxicity , Animals , Bivalvia , OligochaetaABSTRACT
Technological advances in monitoring vulnerable care-recipients are on the rise. Recent and future development of Smart Wear technology (devices integrated into clothing that monitor care-recipients) might assist family caregivers with tasks related to caring for young children, relatives with disabilities, and frail spouses or parents. However, the development and use of this technology in family caregiving contexts is in its infancy. Focus group interviews of family caregivers were conducted to explore perspectives regarding the potential integration of Smart Wear technology into their family caregiving. Responses were analyzed qualitatively for themes related to perceptions of how Smart Wear could impact relationships between caregivers and care-recipients. Three major themes emerged: quality and quantity of interaction, boundary issues, and implications for anxiety. Implications and recommendations are discussed regarding maximizing the potential benefits of Smart Wear technology in ways that promote and protect healthy relationships among caregivers and care-recipients.
Subject(s)
Biomedical Technology/trends , Caregivers/psychology , Microcomputers/trends , Monitoring, Ambulatory/instrumentation , Adult , Aged , Attitude to Computers , Attitude to Health , Female , Focus Groups , Humans , Information Dissemination/methods , Male , Middle Aged , Monitoring, Ambulatory/methods , Monitoring, Ambulatory/psychology , Qualitative Research , United States , Young AdultABSTRACT
BACKGROUND AND OBJECTIVES: Learning to provide long-acting reversible contraception (LARC) during family medicine residency is an important step in building capacity for the primary care workforce to meet the reproductive health care needs of communities. We aimed to measure the impact of adding a contraceptive visit type (CVT) allowing for rapid access to contraception (RAC) on family medicine resident LARC procedure numbers. METHODS: Our program created a CVT in which patients were seen only for contraceptive services. We added the CVT to third-year family medicine resident continuity clinic schedules and a block of CVTs (the RAC clinic) to the third-year gynecology rotation. Residents self-reported LARC procedure numbers performed throughout residency, and the totals were compared for graduating residents from 2023 (post-RAC cohort) to 2022 graduates and 2018-2022 graduates (pre-RAC cohort). RESULTS: Post-RAC cohort residents reported a statistically significant increase in intrauterine device (IUD; P=.015) and contraceptive implant (P=.010) removals compared to the 2022 pre-RAC cohort. Insertions of IUDs and contraceptive implants were unchanged when compared to the pre-RAC cohort. IUD removals (P=.004) and insertions (P=.034), and contraceptive implant removals (P=.028) were significantly increased for post-RAC compared to 2022 graduates, with no difference in contraceptive implant insertions (P=.211). CONCLUSIONS: The addition of the CVT and RAC clinic contributed to an increase in LARC removals in both comparisons, and IUD insertions between 2022 and 2023. This clinic model offers an opportunity for other family medicine residency programs to improve access to contraceptive services and increase resident training in LARC management.
Subject(s)
Family Practice , Health Services Accessibility , Internship and Residency , Long-Acting Reversible Contraception , Humans , Family Practice/education , Female , Long-Acting Reversible Contraception/statistics & numerical data , Ambulatory Care Facilities , Contraception/statistics & numerical data , Intrauterine Devices/statistics & numerical data , AdultABSTRACT
Phenotypic variations are emerging from investigations of carriers of the fragile X mental retardation 1 (FMR1) premutation gene (55 to 200 CGG repeats). Initial studies suggest elevated psychiatric and reproductive system dysfunction, but have largely used self-reports for assessment of psychiatric history. The present study used diagnostic psychiatric interviews and assessed reproductive and menstrual history in women with FMR1 premutation. History of psychiatric diagnoses and data on reproductive functioning were collected in 46 women with FMR1 premutation who were mothers of at least one child with the fragile X full mutation. Results showed a significantly earlier age of menopause (mean age = 45.6 years) relative to the national average age of menopause (mean age = 51 years) and a high rate (76%) of lifetime depressive or anxiety history, with 43% of the overall sample reporting a comorbid history of both diagnoses. Compared to those free of psychiatric history, significantly longer premutation length was observed among women with psychiatric history after adjusting for age, with comorbid women having the highest number of CGG repeats (mean = 95.8) compared to women free of psychiatric history (mean = 79.9). Psychiatric history did not appear significantly related to reproductive system dysfunction, though results may have been obscured by the high rates of psychiatric dysfunction in the sample. These data add to the growing evidence base that women with the FMR1 premutation have an increased risk of psychiatric illness and risk for early menopause. Future investigations may benefit from inclusion of biochemical reproductive markers and longitudinal assessment of psychiatric and reproductive functioning.
Subject(s)
Anxiety Disorders/epidemiology , Anxiety Disorders/genetics , Depression/epidemiology , Depression/genetics , Fragile X Mental Retardation Protein/genetics , Mutation/genetics , Adult , Anxiety Disorders/complications , Comorbidity , Depression/complications , Female , Humans , Middle Aged , United States/epidemiologyABSTRACT
The purpose of this study was to examine potential differences in social learning between individuals with fragile X syndrome (FXS), the leading known inherited cause of intellectual disability, and individuals with non-syndromic autism spectrum disorder (ASD). Thirty school-aged males with FXS and 26 age and symptom-matched males with non-syndromic ASD, were administered a behavioral treatment probe designed to improve levels of social gaze during interactions with others. The treatment probe was administered by a trained behavior therapist over two days in our laboratory and included reinforcement of social gaze in two alternating training conditions - looking while listening and looking while speaking. Prior to each session, children in each group were taught progressive muscle relaxation and breathing techniques to counteract potential increased hyperarousal. Measures included the rate of learning in each group during treatment, in addition to levels of social gaze and heart rate obtained during administration of a standardized social conversation task administered prior to and following the treatment probe. Results showed that learning rates obtained during administration of the treatment probe were significantly less steep and less variable for males with FXS compared to males with non-syndromic ASD. Significant improvements in social gaze were also observed for males with FXS during the social conversation task. There was no effect of the treatment probe on heart rate in either group. These data reveal important differences in social learning between the two groups and have implications for early interventions in the two conditions.
ABSTRACT
Background: Individuals diagnosed with autism spectrum disorder (ASD) commonly experience difficulties maintaining social gaze with others during interactions. Although behavioral interventions targeted to promote social gaze in ASD are evident in the literature, to our knowledge, no review of the literature has been conducted to summarize and evaluate the evidence for these interventions. Methods: We reviewed and summarized behavioral intervention studies designed to promote social gaze in individuals diagnosed with ASD and other developmental disabilities published in English between 1977 and January 2022 using PsychINFO and PubMed databases. Results: 41 studies met the inclusion criteria describing interventions conducted on 608 individuals. A variety of intervention strategies were employed to promote social gaze in these individuals including discrete trial instruction, prompting, modeling, and imitation. Most studies employed single-case research designs and reported successful outcomes, but limited data were available concerning the generalization, maintenance and social validity of these interventions. An increasing number of studies utilized technology-based procedures including computer application gameplay, gaze-contingent eye tracking devices and humanoid robots. Conclusions: The present review indicates that behavioral interventions can be successfully employed to promote social gaze in individuals with ASD and other developmental disabilities. However, future research is needed to establish the generalization, maintenance and social validity of these interventions. There are also important ethical issues to be addressed given the increasing divide between treatment advocates and proponents of the neurodiversity movement.