scholarly journals Morphometric Spatial Patterns Differentiating Boys With Fragile X Syndrome, Typically Developing Boys, and Developmentally Delayed Boys Aged 1 to 3 Years

2008 ◽  
Vol 65 (9) ◽  
pp. 1087 ◽  
Author(s):  
Fumiko Hoeft ◽  
Amy A. Lightbody ◽  
Heather Cody Hazlett ◽  
Swetapadma Patnaik ◽  
Joseph Piven ◽  
...  
Author(s):  
Jane E. Roberts ◽  
Bridgette Tonnsen ◽  
Ashley Robinson ◽  
Svetlana V. Shinkareva

Abstract The present study contrasted physiological arousal in infants and toddlers with fragile X syndrome to typically developing control participants and examined physiological predictors early in development to autism severity later in development in fragile X syndrome. Thirty-one males with fragile X syndrome (ages 8–40 months) and 25 age-matched control participants were included. The group with fragile X syndrome showed shorter interbeat intervals (IBIs), lower vagal tone (VT), and less modulation of IBI. Data suggested a nonlinear effect with IBI and autistic behavior; however, a linear effect with VT and autistic behavior emerged. These findings suggest that atypical physiological arousal emerges within the first year and predicts severity of autistic behavior in fragile X syndrome. These relationships are complex and dynamic, likely reflecting endogenous factors assumed to reflect atypical brain function secondary to reduced fragile X mental retardation protein. This research has important implications for the early identification and treatment of autistic behaviors in young children with fragile X syndrome.


2005 ◽  
Vol 48 (2) ◽  
pp. 494-500 ◽  
Author(s):  
Joanne Roberts ◽  
Elizabeth A. Hennon ◽  
Kathleen Anderson ◽  
Jackson Roush ◽  
Judith Gravel ◽  
...  

Fragile X syndrome (FXS) is the most common inherited cause of mental retardation resulting in developmental delays in males. Atypical outer ear morphology is characteristic of FXS and may serve as a marker for abnormal auditory function. Despite this abnormality, studies of the hearing of young males with FXS are generally lacking. A few studies have suggested that a significant proportion of individuals with FXS demonstrate prolonged auditory brainstem response (ABR) latencies. The purpose of this study was to determine whether young males with FXS display atypical auditory brainstem function compared to typically developing males when conductive and sensorineural hearing loss are ruled out as possible contributors to atypical findings. Participants were 23 males with FXS, 21 typically developing males who were matched for developmental age, and 17 typically developing males who were matched for chronological age. A battery of tests to assess peripheral hearing, cochlear function, and auditory pathway integrity through the level of the brainstem was completed. Males with FXS were similar to typically developing males who were matched for developmental age level or chronological age level on all measures. They had normal hearing sensitivity and middle ear function and scored similar to the typically developing children on the measures of auditory brainstem pathway integrity. In summary, ABRs in young males with FXS were within normal limits.


Author(s):  
Gary E. Martin ◽  
Joanne E. Roberts ◽  
Nancy Helm-Estabrooks ◽  
John Sideris ◽  
Jacqueline Vanderbilt ◽  
...  

Abstract Verbal perseveration is a frequently reported language characteristic of males with Fragile X syndrome and may be a defining feature or hallmark of the syndrome. We compared the verbal perseveration of boys with Fragile X syndrome with (n  =  29) and without (n  =  30) autism spectrum disorder, boys with Down syndrome (n  =  27), and typically developing boys (n  =  25) at similar nonverbal mental ages. During a social interaction, boys with both Fragile X syndrome and autism spectrum disorder produced significantly more topic perseveration than all other groups. In social interaction as compared to narration, boys with Fragile X syndrome (regardless of autism status) produced significantly more topic perseveration. These findings suggest that autism status, as well as language sampling context, affect perseveration in boys with Fragile X syndrome.


2019 ◽  
Vol 124 (6) ◽  
pp. 511-534
Author(s):  
Sara T. Kover ◽  
Leonard Abbeduto

Abstract This study was designed to establish the extent of delay in complex sentence use by females with fragile X syndrome (FXS) and to identify sources of variability among individuals. Females with FXS (n = 16; 10;2–15;7) and younger typically developing girls (n = 17; 4;1–8;11) were group-wise matched on nonverbal cognition and receptive syntax. Language samples (conversation and narration) yielded syntactic complexity in terms of mean length of C-unit (MLCU) and Developmental Level sentence coding (DLevel; Rosenberg & Abbeduto, 1987). Complex syntax was not weaker than developmental expectations; however, MLCU was lower than expected for age. Phonological memory and verbal working memory correlated with measures of syntactic complexity in narration. Discourse demands may play an important role in the language produced by females with FXS.


2005 ◽  
Vol 48 (5) ◽  
pp. 980-995 ◽  
Author(s):  
Joanne Roberts ◽  
Steven H. Long ◽  
Cheryl Malkin ◽  
Elizabeth Barnes ◽  
Martie Skinner ◽  
...  

In this study, the authors compared the phonological accuracy and patterns of sound change of boys with fragile X syndrome, boys with Down syndrome, and typically developing mental-age-matched boys. Participants were 50 boys with fragile X syndrome, ages 3 to 14 years; 32 boys with Down syndrome, ages 4 to 13 years; and 33 typically developing boys, ages 2 to 6 years, who were matched for nonverbal mental age to both the boys with fragile X syndrome and the boys with Down syndrome. All participants were administered a standardized articulation test, and their sound accuracy, phonological process, and proportion of whole-word proximity scores were analyzed. Although boys with fragile X syndrome were delayed in their speech development, they did not differ from the typically developing, mental-age-matched boys in the percentage of correct early-, middle-, and late-developing consonants; phonological processes; or whole-word proximity scores. Furthermore, boys with fragile X syndrome had fewer errors on early-, middle-, and late-developing consonants; fewer syllable structure processes; and higher whole-word proximity scores than did boys with Down syndrome. Boys with Down syndrome also were delayed in their speech development, yet their phonological inventories, occurrences of phonological processes, and proportion of whole-word proximity scores indicated greater delays in their phonological development than the younger, typically developing boys. These results suggest that males with fragile X syndrome display phonological characteristics in isolated words similar to younger, typically developing children, whereas males with Down syndrome show greater delays as well as some developmental differences compared with both the males with fragile X syndrome and typically developing males.


2021 ◽  
Vol 126 (2) ◽  
pp. 167-181
Author(s):  
Kayla Smith ◽  
Abigail L. Hogan ◽  
Elizabeth Will ◽  
Jane E. Roberts

Abstract Early identification of behavioral risk markers for anxiety is essential to optimize long-term outcomes in children with neurodevelopmental disorders. This study analyzed attentional avoidance and its relation to anxiety and autism spectrum disorder (ASD) symptomatology during social and nonsocial fear conditions in toddlers with fragile X syndrome (FXS) and Down syndrome (DS). Toddlers with FXS and DS exhibited increased nonsocial attentional avoidance relative to typically developing (TD) toddlers. Attentional avoidance was not related to anxiety symptom severity in any group; however, higher ASD symptom severity was related to more social attentional avoidance in the FXS and TD groups. Findings suggest that there may be different underlying mechanisms driving attentional avoidance across neurodevelopmental disorders.


2021 ◽  
Author(s):  
Isha Jalnapurkar ◽  
Jean A. Frazier ◽  
Mark Roth ◽  
David M. Cochran ◽  
Ann Foley ◽  
...  

Abstract Background: Fragile X syndrome (FXS) is the most common cause inherited cause of intellectual disability in males and the most common single gene cause of autism. This X-linked disorder is caused by an expansion of a trinucleotide CGG repeat (>200 base pairs) on the promotor region of the fragile X mental retardation 1 gene (FMR1). This leads to the deficiency or absence of the encoded protein, Fragile X mental retardation protein (FMRP). FMRP has a central role in the translation of mRNAs involved in synaptic connections and plasticity. Recent studies have demonstrated the benefit of therapeutics focused on reactivation of the FMR1 locus towards improving key clinical phenotypes via restoration of FMRP and ultimately disease modification. A key step in future studies directed towards this effort is the establishment of proof of concept (POC) for FMRP reactivation in individuals with FXS. For this it is key to determine the feasibility of repeated collection of tissues or fluids to measure FMR1 and FMRP. Methods: Individuals, ages 3 to 22 years of age, with FXS and those who were typically developing participated in this single-site pilot clinical biomarker study. The repeated collection of hair follicles was compared with the collection of blood and buccal swabs for detection of FMR1 mRNA and FMRP and related molecules. Results: There were n = 15 participants, of whom 10 had a diagnosis of FXS (7.0 ± 3.56 years) and 5 were typically developing (8.2 ± 2.77 years). Absolute levels of FMRP and FMR1 mRNA were substantially higher in healthy participants compared to full mutation and mosaic FXS participants, and lowest in the FXS boys. Measurement of FMR1 and FMRP levels by any method did not show any notable variation by collection location at home versus office across the various sample collection methodologies of hair follicle, blood sample, and buccal swab. Conclusion: Findings demonstrated that repeated sampling of hair follicles in individuals with FXS, in both, home and office settings, is feasible, repeatable, and can be used for measurement of FMR1 and FMRP in longitudinal studies.


2006 ◽  
Vol 33 (1) ◽  
pp. 125-144 ◽  
Author(s):  
YONATA LEVY ◽  
RIKI GOTTESMAN ◽  
ZVI BOROCHOWITZ ◽  
MOSHE FRYDMAN ◽  
MICHAL SAGI

The current paper reports of language production in 15 Hebrew-speaking boys, aged 9;0–13;0, with fully methylated, non-mosaic fragile X syndrome and no concomitant diagnosis of autism. Contrary to expectations, seven children were non-verbal. Language production in the verbal children was studied in free conversations and in context-bound speech. Despite extra caution in calculating MLU, participants' language level was not predicted by mean utterance length. Context bound speech resulted in grammatically more advanced performance than free conversation, and performance in both contexts differed in important ways from performance of typically developing MLU-matched controls. The relevance of MLU as a predictor of productive grammar in disordered populations is briefly discussed.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Rodrigo Gonzales-Rojas ◽  
Amtul-Noor Rana ◽  
Peter Mason ◽  
Christopher Renfro ◽  
Vallabhi Annaluru ◽  
...  

Abstract Individuals with autism spectrum disorders (ASDs) imitate observed behavior less than age-matched and typically developing peers, resulting in deterred learning ability and social interaction. However, this deficit lacks preclinical assessment tools. A previous study has shown that mice exhibit contagious itch behavior while viewing a scratching demonstrator mouse, as opposed to an ambulating demonstrator mouse, but whether autism mouse models imitate observed scratching behavior remains unknown. Here, we investigated contagious itch behavior in the mouse model of fragile X syndrome (FXS), a common form of inherited intellectual disabilities with a high risk for ASDs. We found that the mouse model of FXS shows deficits in contagious itch behavior. Our findings can be used as a new preclinical assessment tool for measuring imitative deficits in the study of neurodevelopmental disorders including FXS.


2002 ◽  
Vol 2 (3) ◽  
pp. 244-265 ◽  
Author(s):  
Annick Comblain ◽  
Mouna Elbouz

The language profile of individuals with fragile-X syndrome looks like that of individuals with Down syndrome, except for phonological and pragmatic abilities. Whereas the pragmatic aspect of language is relatively preserved in Down syndrome, it is one of the most impaired language components in fragile-X syndrome. Discourse of persons with fragile X generally contains repetitions, perseverations, and stereotypies. These behaviors are well documented in the literature but we do not know, for now, the reasons for these repetitions and perseverations. Are they the consequence of a real pragmatic disorder or the consequence of motor difficulties? Another aspect of the pragmatic component of language (in this pathology) remains almost unexplored: the common ground management and the organization of the old and the new information in conversation. It is this last point that we explore. We conducted a preliminary study with four boys with fragile-X aged from 6 to 12 years. Pairs of boys worked together on referential communication tasks. We presented traditional experimental situations in a non-eye contact condition between participants. We compared the results of our subjects with those of typically developing children matched for lexical age. Boys with Fragile-X were less efficient than were typically developing children when the message to give or receive contained spatial terms or “ordinal” attributes. They also managed less efficiently with an incomplete message, especially when it was given by an adult.


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