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Severe Mental Retardation (severe + mental_retardation)
Selected AbstractsCognitive and neuropsychological outcomes: More than IQ scoresDEVELOPMENTAL DISABILITIES RESEARCH REVIEW, Issue 4 2002Glen P. Aylward Abstract Improved survival in preterm infants has broadened interest in cognitive and neuropsychological outcomes. The incidence of major disabilities (moderate/severe mental retardation, neurosensory disorders, epilepsy, cerebral palsy) has remained consistent, but high prevalence/low severity dysfunctions (learning disabilities, ADHD, borderline mental retardation, specific neuropsychological deficits, behavioral disorders) have increased. The follow-up literature contains methodologic problems that make generalizations regarding outcome difficult, and these are discussed. Although mean IQs of former VLBW infants generally are in the low average range and are 3,9 points below normal birth weight peers, these scores mask subtle deficits in: visual-motor and visual-perceptual abilities, complex language functions, academics (reading, mathematics, spelling and writing), and attentional skills. There is an increased incidence of non-verbal learning disabilities, need for special educational assistance, and behavioral disorders in children born prematurely. Males have more problems, and there is a trend for worsening outcome over time, due to emergence of more subtle deficits in response to increased performance demands. In addition to IQ and achievement testing in follow-up, there should be evaluation of executive functions and attention, language, sensorimotor functions, visuospatial processes, memory and learning, and behavioral adjustment. MRDD Research Reviews 2002;8:234,240. © 2002 Wiley-Liss, Inc. [source] Coexistence of Idiopathic Rolandic Epilepsy and CSWS in Two FamiliesEPILEPSIA, Issue 10 2006Xavier De Tiège Summary:,Purpose: To report two families combining benign childhood epilepsy with centrotemporal spikes (BCECS) and cryptogenic epilepsy with continuous spike,waves during sleep (CSWS) in first-degree relatives. Methods: Clinical, EEG, and cerebral imaging data are described. Results: Family 1: The proband was 3 years old at epilepsy onset. First seizures were convulsive, with centrotemporal spikes on EEG. At age 5 years, he had complex partial seizures, psychomotor regression, and centrotemporal CSWS. [18F]fluorodeoxyglucose (FDG) positron emission tomography (PET) showed left parietal hypermetabolism. After several antiepileptic drug (AED) trials, valproate (VPA) and ethosuximide (ESM) induced seizure remission, CSWS disappearance, and psychomotor improvement. Learning disabilities, however, persisted. Family history was remarkable for BCECS in his father. Family 2: The proband was 2 years old at epilepsy onset. First seizures were convulsive, with centrotemporal CSWS on EEG. Despite several AED trials including corticosteroids, focal negative myoclonia, atypical absences, and psychomotor regression occurred, leading to severe mental retardation. FDG-PET showed bilateral parietal hypermetabolism. Vagus nerve stimulator was implanted. Her family history was remarkable for BCECS in her father and febrile convulsions in infancy in her mother. Conclusions: These data suggest the existence of a common genetic basis between BCECS and cryptogenic epilepsies with CSWS. The higher expression in patients with CSWS could be related to other genetic or acquired factors. These data suggest that these epileptic syndromes constitute edges of a continuum. [source] Mild Generalized Epilepsy and Developmental Disorder Associated with Large Inv Dup(15)EPILEPSIA, Issue 9 2002Rosanna Chifari Summary: ,Purpose: Several studies attempted to clarify the genotype,phenotype correlations in patients with inverted duplication of chromosome 15 [inv dup(15)], which is usually characterized by severe mental retardation and epilepsy in individuals with large duplications including the Prader,Willi/Angelman region. We report two patients with inv dup(15) who, in spite of a large duplication, had a mild phenotype including adult-onset epilepsy. This report may help to define the milder spectrum of the syndrome. Methods: A 25-year-old girl with mild mental retardation had a 6-year history of absence seizures, with occasional head drop. Interictal EEG revealed diffuse spike,wave complexes. Epilepsy was well controlled by a combination of lamotrigine (LTG) and valproate (VPA). The other patient, a 27-year-old man with mild mental retardation, had a 5-year history of rare generalized tonic,clonic seizure during sleep, and frequent episodes of unresponsiveness, which appeared to be atypical absence seizures on video-EEG recordings. A combination of VPA and LTG led to a remarkable improvement, although no complete control. Results: Molecular analysis revealed a large inv dup15 in both patients. Conclusions: The discrepancy between the mild phenotype and the severe chromosomal abnormality detected in these two patients further supports the notion that the site of breakpoint might be contributory to the inv dup(15) phenotype. Inv dup(15) should be considered in atypical cases of generalized epilepsy of adult onset without clear-cut etiology. [source] Molecular Genetic Study on Angelman Syndrome Patients without a Chromosomal DeletionEPILEPSIA, Issue 2000Shinji Saitoh Purpose: Angelman syndrome (AS) is a ncurobehavioral disorder characterized by severe mental retardation, easily cvoked laughter, ataxic gait, and epilepsy. Epilepsy associated with AS is characterized by early childhood onset gencralized seizures with profound EEG abnormalities. Therefore, AS is a good human model for genetic epilepsy syndromes. Approximately 70% of AS cases are caused by maternal deletions of chromosomc 15q I I-qI3; whereas, 30% are not associated with a chromosomal dcletion. Thcse non-deletion AS patients are caused by paternal uniparental disomy (UPD), imprinting mutation (IM), or loss-or-function mutations of the UBE3A gene, cach of which predisposes different recurrence risk. To elucidate molecular etiology of non-dclction AS patients, we investigated 34 AS patients without a chromosomal deletion. Methods: Thirty sporadic AS patients, and 4 familial AS patients (2 families of 2 sibs) were enrolled to the study. The diagnosis of AS was based on Williams' criteria (Williams et al., Am J Med Genet 1995, 56: 237). Genomic DNA was extracted from peripheral blood by a standard procedure. DNA mcthylation tcst at SNRPN locus and genotyping using 7 highly informative PCR-based polymorphisms within 15q I I - q I3 were carried out to identify UPD and IM. When both UPD and IM were ruled out, the patients were classified :LS non-UPD, non-IM. For thcsc non-UPD, non-1M paticnts, UBE3A mutations were screened by PCR-SSCP analysis using 10 sets ofprimcrs covering all coding exons. Results: Among 30 sporadic patients, I UPD and 3 IM patients were identified, and the remaining 26 patients were classified as non-UPD, non-IM. Among 4 familial patients, 2 sibs from I family were detected as IM, whcrcas 2 sibs from another family were classified as non-UPD, non-IM. No UBE3A mutations were identified within 26 sporadic and 2 familial non-UPD, non-IM patients. Conclusion: Threc molecular classes were identified for noindeletion AS patients. Therefore, the underlying genetic mechanism was dcmonstratcd to be complex for AS patients without a chromosomal deletion. Combination of the DNA methylation test and PCR-based polymorphisms was sufficient to detect UPD and IM patients. Because recurrence risk is low for UPD and high lor IM, systematic molecular investigation including the DNA methylation test and PCR-based polymorphisms should bc donc for non-delction AS paticnts for genetic counscling purpose. A majority of non-deletion patients were classified as noii-UPD, non-1M. Although, approximate 30% of non-UPD, nonIM patients arc rcportcd to have UBE3A mutations, no such mutations were identified in our study. An underlying molecular mechanism was not rcvealcd for this group of patients, and therefore, assessment of recurrence risk was difficult. Further investigation is necessary for noii-UPD, non-1M paticnts. [source] De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy,ANNALS OF NEUROLOGY, Issue 6 2009Fadi F. Hamdan PhD We sequenced genes coding for components of the SNARE complex (STX1A, VAMP2, SNAP25) and their regulatory proteins (STXBP1/Munc18-1, SYT1), which are essential for neurotransmission, in 95 patients with idiopathic mental retardation. We identified de novo mutations in STXBP1 (nonsense, p.R388X; splicing, c.169+1G>A) in two patients with severe mental retardation and nonsyndromic epilepsy. Reverse transcriptase polymerase chain reaction and sequencing showed that the splicing mutation creates a stop codon downstream of exon-3. No de novo or deleterious mutations in STXBP1 were found in 190 control subjects, or in 142 autistic patients. These results suggest that STXBP1 disruption is associated with autosomal dominant mental retardation and nonsyndromic epilepsy. Ann Neurol 2009;65:748,753 [source] Reducing attention-maintained behavior through the use of positive punishment, differential reinforcement of low rates, and response markingBEHAVIORAL INTERVENTIONS, Issue 4 2009Rick Shaw A differential reinforcement of low (DRL) rates procedure was implemented as a changing criterion design with positive punishment and response marking to reduce attention-maintained behavior of screaming, profanity, and disruptive behaviors of three adolescent males. One participant was diagnosed with static encephalopathy and attention deficit hyperactivity disorder (ADHD) and severe mental retardation, the other two were diagnosed with Down syndrome, one with moderate mental retardation, and the other with severe mental retardation. Through response marking, a verbal warning was delivered immediately following the initial occurrence of a target behavior. A special token (positive punishment) was immediately delivered with a verbal cue and placed on a behavior board following the next occurrence of that behavior. Appropriate requests (hand-raising) for attention was acknowledged and reinforced with verbal praise. The DRL procedure, combined with positive punishment and response marking, was successful in decreasing the frequency of targeted behaviors amongst all participants. Copyright © 2009 John Wiley & Sons, Ltd. [source] Reducing hoarding behavior with individualized reinforcement and item returnBEHAVIORAL INTERVENTIONS, Issue 2 2006Cynthia L. Berry Treatment research on hoarding is generally limited to people without intellectual disabilities who have symptoms of obsessive compulsive disorder and respond favorably to cognitive-based therapies. We evaluated the effects of individualized reinforcement and item return procedures on hoarding behavior in a multiple baseline across three persons with severe mental retardation. Systematic preference assessment procedures identified items used in the individualized reinforcement procedures. Reductions in hoarding behavior occurred for each person when individualized treatment and item return procedures were applied. These reductions were maintained when direct support staff were trained to provide treatment. Copyright © 2006 John Wiley & Sons, Ltd. [source] Noncontingent reinforcement and competing stimuli in the treatment of pseudoseizures and destructive behaviorsBEHAVIORAL INTERVENTIONS, Issue 3 2005Iser G. DeLeon Individuals diagnosed with epilepsy have sometimes also been observed to display ,pseudoseizures', or clinical events that mimic those observed during epileptic seizures, but are not associated with abnormal cortical electrical discharges. Several investigators have hypothesized that pseudoseizures, in some proportion of those individuals that display them, may be maintained through operant contingencies. In the present study, this sort of hypothesis was tested in a 10-year-old boy with severe mental retardation and a seizure disorder. Informal observations, and later, response-reinforcer contingencies, revealed that the pseudoseizures, as well as other destructive behaviors, occurred at high rates when they resulted in attention from caregivers. Subsequently, a treatment package consisting of noncontingent reinforcement (NCR) and competing stimuli was used to decrease levels of seizure-like activity and other problem behaviors. This study adds to the literature that suggests that seizure-like activity may come under operant control and extends the use of NCR and competing stimuli to a novel target behavior. Copyright © 2005 John Wiley & Sons, Ltd. [source] Using video modeling to teach a domestic skill with an embedded social skill to adults with severe mental retardationBEHAVIORAL INTERVENTIONS, Issue 4 2004Melissa A. Bidwell We assessed whether three adults with severe mental retardation would acquire a domestic skill (making coffee) with an embedded social skill (serving coffee to and sitting down beside a peer) via video modeling procedures. Training was conducted in a classroom in the participants' day treatment setting. The intervention consisted of (i) watching a video of an adult with a developmental disability making coffee and initiating a social interaction with a peer; and (ii) receiving verbal praise for each step of the task that was performed correctly. All three participants mastered the task and demonstrated generalization across settings, stimuli, and people. Two participants performed with 100% accuracy on maintenance probes conducted 1 month following mastery, and one participant did so following booster training. Copyright © 2004 John Wiley & Sons, Ltd. [source] Teaching a simple meal preparation skill to adults with moderate and severe mental retardation using video modelingBEHAVIORAL INTERVENTIONS, Issue 3 2003Ruth Anne Rehfeldt We evaluated whether adults with mental retardation in the moderate or severe range would acquire simple meal preparation skills via video modeling. Training was conducted in the kitchen of the participants' day treatment setting. The intervention consisted of (i) watching a video of an adult with a developmental disability making a peanut butter and jelly sandwich and (ii) receiving verbal praise for each step of the task that was performed correctly. All three participants mastered the task and demonstrated generalization across settings. All three participants also demonstrated maintenance of the skill one month following mastery. Copyright © 2003 John Wiley & Sons, Ltd. [source] A mand analysis and levels treatment in an outpatient clinicBEHAVIORAL INTERVENTIONS, Issue 2 2003Julia T. O'Connor An adolescent with severe mental retardation and fragile X syndrome who displayed destructive behavior maintained by positive reinforcement in the form of adult compliance with mands was assessed and treated in an outpatient setting. A levels system treatment was assessed, consisting of a continuum of attention and reinforcement ranging from access to the functional reinforcer in level 3 contingent upon appropriate behavior to a 10,min room time-out for level 1 contingent upon aggressive and dangerous behavior. While the efficacy of this treatment has been demonstrated in an inpatient setting (Hagopian et al., 2002), this application extended the findings to outpatient and community settings. The levels system treatment resulted in a 98.1% reduction in destructive behavior from baseline levels. Treatment was successfully transferred to the home and school and reductions were maintained at 6 and 9 months. Treatment acceptability ratings were high across both home and school staff. Copyright © 2003 John Wiley & Sons, Ltd. [source] Treatment of self-injury correlated with mechanical restraintsBEHAVIORAL INTERVENTIONS, Issue 2 2001SungWoo Kahng Mechanical arm restraints were used to decrease hand-to-head self-injurious behavior (SIB) exhibited by a 16-year-old female with severe mental retardation. Although mechanical restraints reduced hand-to-head SIB, they were correlated with an increase in other topographies of SIB (e.g., head banging). These other topographies were not significantly affected by the addition of an environmental enrichment procedure, but were immediately and almost completely suppressed when contingent exercise was added. Copyright © 2001 John Wiley & Sons, Ltd. [source] | ||||||||||