There has been little effort directed at training health care professionals in behaviors and attitudes that are effective in communicating with persons with mental retardation. Such training would be beneficial not only to assist those with congenital cognitive deficits but for those with acquired central nervous system conditions as well, for example, dementia. Persons with mental retardation are living in community settings in greater numbers and increasingly participating in vocational, residential, and health care programs. Yet, most health care professionals are not routinely offered an opportunity to gain experience interacting with people who have limited ability to express and understand health care information. An education program was focused on health care professionals' use of basic communication skills when providing health information to an adult who is mentally retarded. A self-study instructional text and a 20-minute companion video provided methods of communicating with a patient with mental retardation in medical and dental care settings. Resident physicians, medical students, nurses, and nursing assistants improved their communication skills, knew more about mental retardation, and were more proactive in health care interviews following training. Health care training needs to incorporate educational opportunities focusing on skills to assist special populations. Brief, structured, and interactive skill training in communication offered early in the health care professional's career has positive benefits for the recipient and the provider.
The study was carried out in 25 mentally retarded children and compared with equal number of normal children. They were subjected to detailed psychiatric evaluation and dental examination. The dental anomalies were corroborated with cephalometric analysis of lateral cephalograms. It was concluded that all mentally retarded children had some dental abnormality in them in form of dental malocclusion, wide inter dental spaces, absence of teeth etc. We suggest early dental management for such patients for reinforcing their neuromuscular coordination modifying the mastication power, swallowing, speech, stomatognathic function and above all their facial profile for better social acceptance.
Foreign body ingestion has been a fundamental subject in the area of emergency surgery. The problem is encountered across all age groups; however, it is more common in the pediatric age group. Foreign body ingestion is rare in adults and usually occurs accidentally or in those with psychiatric problems, behavioral disorders, emotional disturbance, mental retardation, or impaired judgment caused by alcohol use.
Presentation of case
A 33-year-old Caucasian man with chronic schizophrenia was admitted to the emergency department with signs of upper gastrointestinal discomfort as a result of ingestion of a lower dental prosthesis. An abdominal X-ray showed the swallowed dental prosthesis in front of the vertebral column. A technique comprising gastrotomy and duodenal kocherization was used to remove the dental prosthesis; the prosthesis could not be removed endoscopically due to its fixed position on the duodenal wall.
Surgery of the duodenum is difficult and carries high mortality and morbidity. Therefore, endoscopy should be the first choice for patients in whom a foreign object is demonstrated to be fixed in the duodenum. In cases where endoscopic extraction fails, surgery should be considered. During surgery, foreign bodies should be removed, paying meticulous attention not to harm the integrity of the duodenum.
The technique presented in this study was performed successfully without any injury to the duodenum.
Foreign body; Dental prosthesis; Duodenal kocherization; Gastrotomy; Schizophrenia
Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growth retardation, and mental deficiency. A seven-year-old girl had come to the Department of Pedodontics, Istanbul Medipol University, Faculty of Dentistry, Turkey, with a complaint of caries and bleeding of gingivae. The patient was mentally retarded. Extraoral features revealed distinctive facial appearance with a broad fore head, hypertelorism, broad nasal bridge, and beaked nose. Intraoral features observed were talons cusps in the upper lateral incisors, carious teeth, and plaque accumulation. Since the patient was mentally retarded, the dental treatment was done under GA. The treatment plan and dental management of this patient are discussed in this case report.
Fragile X syndrome (FXS) is the most common inherited cause of intellectual disability. In addition to cognitive deficits, FXS patients exhibit hyperactivity, attention deficits, social difficulties, anxiety, and other autistic-like behaviors. FXS is caused by an expanded CGG trinucleotide repeat in the 5′ untranslated region of the Fragile X Mental Retardation (FMR1) gene leading to epigenetic silencing and loss of expression of the Fragile X Mental Retardation protein (FMRP). Despite the known relationship between FMR1 CGG repeat expansion and FMR1 silencing, the epigenetic modifications observed at the FMR1 locus, and the consequences of the loss of FMRP on human neurodevelopment and neuronal function remain poorly understood. To address these limitations, we report on the generation of induced pluripotent stem cell (iPSC) lines from multiple patients with FXS and the characterization of their differentiation into post-mitotic neurons and glia. We show that clones from reprogrammed FXS patient fibroblast lines exhibit variation with respect to the predominant CGG-repeat length in the FMR1 gene. In two cases, iPSC clones contained predominant CGG-repeat lengths shorter than measured in corresponding input population of fibroblasts. In another instance, reprogramming a mosaic patient having both normal and pre-mutation length CGG repeats resulted in genetically matched iPSC clonal lines differing in FMR1 promoter CpG methylation and FMRP expression. Using this panel of patient-specific, FXS iPSC models, we demonstrate aberrant neuronal differentiation from FXS iPSCs that is directly correlated with epigenetic modification of the FMR1 gene and a loss of FMRP expression. Overall, these findings provide evidence for a key role for FMRP early in human neurodevelopment prior to synaptogenesis and have implications for modeling of FXS using iPSC technology. By revealing disease-associated cellular phenotypes in human neurons, these iPSC models will aid in the discovery of novel therapeutics for FXS and other autism-spectrum disorders sharing common pathophysiology.
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare inherited disorder of the peripheral nervous system resulting from mutations in neurotrophic tyrosine kinase receptor 1 gene (NTRK1), which encodes the high-affinity nerve growth factor receptor TRKA. Here, we investigated the oral and craniofacial manifestations of a Chinese patient affected by autosomal-recessive CIPA and identified compound heterozygosity in the NTRK1 gene. The affected boy has multisystemic disorder with lack of reaction to pain stimuli accompanied by self-mutilation behavior, the inability to sweat leading to defective thermoregulation, and mental retardation. Oral and craniofacial manifestations included a large number of missing teeth, nasal malformation, submucous cleft palate, severe soft tissue injuries, dental caries and malocclusion. Histopathological evaluation of the skin sample revealed severe peripheral nerve fiber loss as well as mild loss and absent innervation of sweat glands. Ultrastructural and morphometric studies of a shed tooth revealed dental abnormalities, including hypomineralization, dentin hypoplasia, cementogenesis defects and a dysplastic periodontal ligament. Genetic analysis revealed a compound heterozygosity- c.1561T>C and c.2057G>A in the NTRK1 gene. This report extends the spectrum of NTRK1 mutations observed in patients diagnosed with CIPA and provides additional insight for clinical and molecular diagnosis.
Mental retardation is a developmental disorder associated with impaired cognitive functioning and deficits in adaptive behaviors. Many studies have addressed white matter abnormalities in patients with mental retardation, while the changes of the cerebral cortex have been studied to a lesser extent. Quantitative analysis of cortical integrity using cortical thickness measurement may provide new insights into the gray matter pathology. In this study, cortical thickness was compared between 13 patients with mental retardation and 26 demographically matched healthy controls. We found that patients with mental retardation had significantly reduced cortical thickness in multiple brain regions compared with healthy controls. These regions include the bilateral lingual gyrus, the bilateral fusiform gyrus, the bilateral parahippocampal gyrus, the bilateral temporal pole, the left inferior temporal gyrus, the right lateral orbitofrontal cortex and the right precentral gyrus. The observed cortical thickness reductions might be the anatomical substrates for the impaired cognitive functioning and deficits in adaptive behaviors in patients with mental retardation. Cortical thickness measurement might provide a sensitive prospective surrogate marker for clinical trials of neuroprotective medications.
This study was conducted on the estimation of the efficiency of mental health program in primary health care in Chaharmahal and Bakhtyari province, situated in center of the Islamic Republic of Iran, from 1999 to 2009.
One of the important objectives of mental health program is screening of mental health disorders and follow up. According to the prescription of mental health program, General Practitioners (GPs) were appointed to screen under-covered individuals, treat patients and also follow-up the patients with mental health disorders who needs referring to psychiatric clinics. Diagnostic criteria of mental disorders were based on American Psychiatry Association (DSM IV1994). Patients were categorized in four groups as follows: 1 - Severe mental disorders, such as major depression, schizophrenia, bipolar disorders, etc., 2 - Mild mental disorders, such as neurosis, anxiety, etc., 3 - Convulsive disorders and 4 - Behavioral disorders. The convulsive disorders and their types were diagnosed by physical examination and electroencephalography. In order to screen mental retardation, intelligence scale (IQ) score < 70 was considered as mental retardation. During the 10 years (1999 to 2009) of conducting program, all new diagnosed cases were confirmed by psychiatrists. All data was recorded in health files by trained GPs and they were assessed and justified by psychiatrists.
During 10 years after conducting and stabilizing integrated mental health in primary health care, 13514 patients overall were newly detected and followed. Ten years incidence of total psychiatric disorders was estimated in about 15.9 per 1000 populations.
Integrated mental health care offers the opportunity to increase access and develop efficiency of the mental health cares.
Mental health; Integration; Efficiency; Primary health care
Filippi syndrome is an autosomal recessive condition characterized by variable soft tissue syndactyly of the fingers and toes, microcephaly, pre- and postnatal growth retardation, mildly abnormal craniofacial appearance, and mental retardation. We report on a child with Filippi syndrome who shows syndactyly of fingers, severe postnatal growth retardation, postnatal microcephaly, and moderate to severe mental retardation. In addition, there is a mildly dysmorphic face along with ocular and a number of dental abnormalities. Radiologically, hands demonstrate bony syndactyly, without any hypoplasia of bones. This phenotype can easily be classified in the group of craniodigital syndromes, but it is difficult to make a more clearly defined diagnosis, based on other minor anomalies, because of the presence of overlapping features. On the basis of various pathognomic features, we conclude that our patient could be an additional case of Filippi syndrome. Moreover, newly recognised features in this patient may be due to variability in phenotypic expression.
Rubinstein-Taybi Syndrome (RTS) is a rare multiple congenital syndrome characterized by distinctive facial features, mental and growth retardation, broad thumbs and great toes. This case report describes the oro-dental manifestations, as well as, orthodontic evaluation of a 9-year-old male patient who had RTS. The remarkable oro-dental features were talon-like cingulum on maxillary central incisors, unerupted supernumerary teeth. Cone-beam computerized tomography was taken in order to identify his skeletal anomalies, bilateral cross-bite and a narrow maxilla were diagnosed. Dental treatments were completed under i.v sedation due to the patient’s inability to cooperate during dental treatment. Perioparetive and postoperative courses were uneventful. Following dental treatments, orthodontic therapy was initiated with a fixed rapid maxillary expansion appliance.
Rubinstein Taybi Syndrome; Oro-facio-dental findings
Dental fear is a barrier to receiving dental care, particularly for those patients who also suffer from mental illnesses. The current study examined United States dental professionals’ perceptions of dental fear experienced by patients with mental illness, and frequency of sedation of patients with and without mental illness. Dentists and dental staff members (n = 187) completed a survey about their experiences in treating patients with mental illness. More participants agreed (79.8%) than disagreed (20.2%) that patients with mental illness have more anxiety regarding dental treatment (p < .001) than dental patients without mental illness. Further, significantly more participants reported mentally ill patients’ anxiety is “possibly” or “definitely” a barrier to both receiving (96.8%; p < .001) and providing (76.9%; p < .01) dental treatment. Despite reporting more fear in these patients, there were no significant differences in frequency of sedation procedures between those with and without mental illness, regardless of type of sedation (p’s > .05). This lack of difference in sedation for mentally ill patients suggests hesitancy on the part of dental providers to sedate patients with mental illness and highlights a lack of clinical guidelines for this population in the US. Suggestions are given for the assessment and clinical management of patients with mental illness.
The management of the behavior of mentally challenged adults when providing required dental care is often a problem, whether in the dental office or in a hospital setting. Our institution has a designated program to provide required dental care to this group of patients. Because of the high incidence of poor cooperation, which may include aggressive antagonistic behavior, many of these patients are scheduled for dental care under general anesthesia with an incomplete preoperative medical assessment. The purpose of this study was to determine the impact and limitations that an incomplete medical assessment may present in the delivery of dental care under general anesthesia to these adults with developmental disability. After approval from the institutional review board, the medical records of 139 patients treated in this program between 1992 and 1994 were reviewed to determine the patient profiles, anesthesia management, and complications. The charts of these patients, who underwent dental and radiographic examination, scaling and prophylaxis, and restoration and extraction of teeth under general anesthesia, were reviewed. There were 149 procedures performed on these patients, some more than once. The mean age was 29.5 yr. Males predominated females by a ratio of 2:1. All had multiple diagnoses, medical problems, and medications. Twenty-three patients had Down's Syndrome, four had schizophrenia disorders, 42 had seizure disorders, 11 had hypothyroidism, seven had heart disease, and 14 had central nervous system and neuromuscular disorders. The remainder had a variety of diagnoses, including rare syndromes. One hundred had intravenous (i.v.), 25 had mask inhalation, and 24 had intramuscular ketamine (Ketalar) induction. Nasotracheal intubation was uneventful in 139 patients, five had difficult visualization of the larynx and intubation. Ten patients experienced intraoperative complications, including nonfatal ventricular arrhythmia, slight fall in blood pressure and hypertension (greater than 20% of preoperative value), and four individuals developed laryngospasm. In the Post Anesthetic Care Unit, five patients experienced minor airway problems resulting in a desaturation of oxygen to a level below 85%. Adults with developmental disabilities can be safely managed under general anesthesia for dental treatment in a hospital setting with minimal morbidity and without extensive preoperative investigations.
The purpose of this study was to identify the risk factors associated with low peripheral oxygen saturation (SpO2) and delayed recovery of dental patients with disabilities after intravenous sedation. A total of 1213 patients with disabilities were retrospectively investigated with respect to demographic parameters and sedation conditions. Multivariate logistic analyses were conducted for patients with an SpO2 <90% and a recovery period of >60 minutes to identify the risk factors for poor sedation conditions. A significant odds ratio related to decreased SpO2 was observed for age, sex, midazolam and propofol levels, concurrent use of nitrous oxide, cerebral palsy, Down syndrome, and mental retardation. The most problematic patients were those diagnosed with Down syndrome (odds ratio, 3.003–7.978; 95% confidence interval; P < .001). Decision tree analysis showed an increased risk of decreased SpO2 in males with Down syndrome or after administration of >0.493 mg/kg propofol in combination with midazolam. An increased risk of delayed awakening was seen in patients aged less than 21 years and in males administered >0.032 mg/kg of midazolam. Intravenous sedation for dental patients with disabilities, particularly those with cerebral palsy, Down syndrome, or mental retardation, increases the risk of decreased SpO2. In addition, delayed recovery is expected after midazolam administration.
Dental sedation; Low peripheral oxygen saturation; Delayed recovery
Progressive muscular dystrophy may produce abnormal reactions to several drugs. There is no consensus of opinion regarding the continuous infusion of propofol in patients with progressive muscular dystrophy. We successfully treated 2 patients with progressive muscular dystrophy who were anesthetized with a continuous infusion of propofol. In case 1, a 19-year-old, 59-kg man with Becker muscular dystrophy and mental retardation was scheduled for dental treatment under general anesthesia. General anesthesia was maintained by a continuous infusion of 6–10 mg/kg propofol per hour and an inhalational mixture of 67% nitrous oxide and 33% oxygen. No complications were observed during or after the operation. In case 2, a 5-year-old, 11-kg boy with Fukuyama type congenital muscular dystrophy and slight mental retardation was scheduled for dental treatment under general anesthesia. General anesthesia was maintained with a continuous infusion of 6–12 mg/kg propofol per hour and an inhalational mixture of 0.5–1.5% sevoflurane in 67% nitrous oxide and 33% oxygen. No complications were observed during or after the operation. It is speculated that a continuous infusion of propofol in progressive muscular dystrophy does not cause malignant hyperthermia because serum levels of creatine phosphokinase and myoglobin decreased after our anesthetic management. Furthermore, our observations suggest that sevoflurane may have some advantages in patients with progressive type muscular dystrophies other than Duchenne muscular dystrophy and Becker muscular dystrophy. In conclusion, our cases suggest that a continuous infusion of propofol for the patients with progressive muscular dystrophy is a safe component of our anesthetic strategy.
Propofol; Progressive muscular dystrophy; General anesthesia; Sevoflurane
“Mental disorder” is the most common used term in the modern life and the main reason behind this may be the mechanical way of life or stress and strain among youth.
To find the pattern of mental disorders of hospitalized patients in a medical college hospital from 1st April 2005 to 31st March 2010.
Settings and Design:
A retrospective study conducted among the patients admitted with mental disorders in a medical college hospital from 1st April 2005 to 31st March 2010.
Materials and Methods:
Data collected from the registers maintained in the medical records department.
Z test is used for the comparison of proportions.
A total of 7908 mental disorder cases reported in the medical college hospital, 5564 (70.36%) were males and 2344 (29.64%) were females. Most cases occurred in the age group of 30-44 years. Mental disorder was more among females than males in 0-29 years and ≥ 60 years, but in 30-59 years males were more. In each year, mental disorders were reported more in males than females. Of the cases, most of them were mood disorders. Mental and behavioral disorders due to psychoactive substance use were more among males but schizophrenia, delusional disorders, mood disorders, stress-related disorders, mental retardation, and so on were more among females.
Mood disorder was the most occurred mental disorder and the next leading mental disorder was mental and behavioral disorders due to psychoactive substance use. Counseling can be helpful for preventing most of the mental disorders. Improve the mental health care facilities will be the solution for controlling the mental disorders.
Age; anxiety disorder; mental disorder
OBJECTIVES: This article presents survey data about the health and behavioral characteristics of a randomly selected sample of 629 adults with mental retardation (MR) living in Massachusetts in 2000. The goals of this analysis were to: describe the health, behavioral, and functional characteristics of the sample; examine relationships between consumer health, behavior problems, and functioning; and analyze variations in health and behavior problems by type of residential setting (parent/relative home, community residence, or institutional setting). METHODS: The authors analyzed data obtained from interviews with proxies (relatives, guardians, advocates, or program staff) on behalf of consumers and from state agency records. Chi-square analyses were conducted to examine the relationships between health, behavioral, and functional characteristics of consumers and differences in health and behaviors by type of residence. RESULTS: More than 80% of consumers were reported to have either "excellent" or "good" health. Overall health status did not significantly vary by residential type, but was significantly related to the presence of additional disabilities and some functional limitations. Several health and behavioral measures varied significantly by residential type: recent physical, dental, and ob/gyn exams; medication usage; problem behaviors; and functional level. CONCLUSIONS: As large numbers of individuals with MR reach adulthood and old age, public health and medical professionals face the challenges of addressing the health and behavioral needs of this population, preventing secondary health conditions, and improving environmental conditions that may influence health and mental health.
Cerebral palsy (CP) is one of the most severe childhood disabilities due to a lesion in the developing brain. Oral conditions often observed in this pathogenic are a tendency for the delayed eruption of permanent molars, higher percentages of malocclusion and parafunctional habits, including bruxism. The significance of oral conditions observed in CP patients demonstrates the need for intensive home and professional care for these individuals. This paper presents a 7-year-old boy, with cerebral palsy, severe mental retardation, who had high abrasion wear of the primary teeth related to bruxism. Dental care was carried out under oxide-induced sedation, and management of the bruxism was achieved after the use of a resin acrylic protective appliance fixed on both sides of the mandibula. The treatment performed offered efficiency advantages, was clinically viable, and should be a valuable option to practitioners considering appliance therapy to control parafunctional behavior.
BACKGROUND—Submicroscopic subtelomeric chromosome defects have been found in 7.4% of children with moderate to severe mental retardation and in 0.5% of children with mild retardation. Effective clinical preselection is essential because of the technical complexities and cost of screening for subtelomere deletions.
METHODS—We studied 29 patients with a known subtelomeric defect and assessed clinical variables concerning birth history, facial dysmorphism, congenital malformations, and family history. Controls were 110 children with mental retardation of unknown aetiology with normal G banded karyotype and no detectable submicroscopic subtelomeric abnormalities.
RESULTS—Prenatal onset of growth retardation was found in 37% compared to 9% of the controls (p<0.0005). A higher percentage of positive family history for mental retardation was reported in the study group than the controls (50% v 21%, p=0.002). Miscarriage(s) were observed in only 8% of the mothers of subtelomeric cases compared to 30% of controls (p=0.028) which was, however, not significant after a Bonferroni correction. Common features (>30%) among subtelomeric deletion cases were microcephaly, short stature, hypertelorism, nasal and ear anomalies, hand anomalies, and cryptorchidism. Two or more facial dysmorphic features were observed in 83% of the subtelomere patients. None of these features was significantly different from the controls. Using the results, a five item checklist was developed which allowed exclusion from further testing in 20% of the mentally retarded children (95% CI 13-28%) in our study without missing any subtelomere cases. As our control group was selected for the "chromosomal phenotype", the specificity of the checklist is likely to be higher in an unselected group of mentally retarded subjects.
CONCLUSIONS—Our results suggest that good indicators for subtelomeric defects are prenatal onset of growth retardation and a positive family history for mental retardation. These clinical criteria, in addition to features suggestive of a chromosomal phenotype, resulted in the development of a five item checklist which will improve the diagnostic pick up rate of subtelomeric defects among mentally retarded subjects.
Keywords: submicroscopic subtelomeric rearrangements; clinical preselection; checklist; chromosome deletion.
Dubowitz syndrome is a rare autosomal recessive disorder characterized by micorcephaly, short stature, abnormal faces, and mild to severe mental retardation. Growth retardation occurs both intrauterine and postnatal. Behavioral characteristics include hyperactivity, short attention span, and aggressiveness. Behavior problems include difficulty feeding, sleep disturbance, and bedwetting. Individuals with the disorder have displayed shyness, fear of crowds, and dislike of loud noises. A high-pitched or hoarse voice is common. Deficits have been found in speech and language skills, reasoning and memory skills, self-help skills, and psychomotor functioning. Ocular, dental, cutaneous, skeletal, cardiovascular, gastrointestinal, neurological, immunological, and hematological medical difficulties have been noted. Approximately 148 cases have been described in the literature. The cause of the disorder remains unknown, however, research suggests genetic origin. Past research emphasizes physical characteristics and medical complications. There is a lack of cognitive, behavioral, and psychological information available regarding the disorder. This article presents a review of the literature and provides assessment and treatment implications for the cognitive, behavioral, and psychological aspects of Dubowitz syndrome.
Dubowitz; Syndrome; Autosomal; Recessive
Mental and behavioral disorders among adults with Usher syndrome have been discussed and reported in some case studies but no research has been reported on children with Usher syndrome.
This article investigates the prevalence and characteristics of mental and behavioral disorders among 26 children, 3-17 years of age, with Usher syndrome.
Six of the 26 children were diagnosed with a mental or behavioral disorder (1 with schizophrenia and mild mental retardation, 1 with atypical autism and severe mental retardation, 1 with atypical autism and mild mental retardation, 1 with mild mental retardation, and 2 with conduct disorder). Another 3 children had had a mental or behavioral disorder previously in their childhood.
Even though vision impairment first manifests in late childhood, some children with Usher syndrome seem to develop mental and behavioral disorders during childhood. The aetiology and treatment of mental and behavioral disorders among children with Usher syndrome are discussed. Children with Usher syndrome and their parents may need clinical support during early childhood to prevent development of mental and behavioral disorders.
Deafblindness; Dual sensory loss; Mental and behavioral disorders; Usher syndrome; Psychiatry
The last decade has witnessed the identification of single-gene defects associated with an impressive number of mental retardation syndromes. Fragile X syndrome, the most common cause of mental retardation for instance, results from disruption of the FMR1 gene. Similarly, Periventricular Nodular Heterotopia, which includes cerebral malformation, epilepsy and cognitive disabilities, derives from disruption of the Filamin A gene. While it remains unclear whether defects in common molecular pathways may underlie the cognitive dysfunction of these various syndromes, defects in cytoskeletal structure nonetheless appear to be common to several mental retardation syndromes. FMR1 is known to interact with Rac, profilin, PAK and Ras, which are associated with dendritic spine defects. In Drosophila, disruptions of the dFmr1 gene impair long-term memory (LTM), and the Filamin A homolog (cheerio) was identified in a behavioral screen for LTM mutants. Thus, we investigated the possible interaction between cheerio and dFmr1 during LTM formation in Drosophila. We show that LTM specifically is defective in dFmr1/cheerio double heterozygotes, while it is normal in single heterozygotes for either dFmr1 or cheerio. In dFmr1 mutants, Filamin (Cheerio) levels are lower than normal after spaced training. These observations support the notion that decreased actin cross-linking may underlie the persistence of long and thin dendritic spines in Fragile X patients and animal models. More generally, our results represent the first demonstration of a genetic interaction between mental retardation genes in an in vivo model system of memory formation.
fragile X; filamin A; memory; mental retardation; dendritic spine
Dubowitz syndrome is a very rare, autosomal recessive disease characterized by microcephaly, growth retardation, a high sloping forehead, facial asymmetry, blepharophimosis, sparse hair and eyebrows, low-set ears and mental retardation. Symptoms vary between patients, but other characteristics include a soft high-pitched voice, dental and craniofacial abnormalities, partial webbing of the fingers and toes, palate deformations, genital abnormalities, eczema, hyperactivity, preference for concrete over abstract thinking, language difficulties and an aversion to crowds.
We describe the craniofacial and dental characteristics of a 12-year-old Caucasian Italian boy with both the typical and less common findings of Dubowitz syndrome.
Diagnosis of Dubowitz syndrome is mainly based on the facial phenotype. Possible conditions for differential diagnosis include Bloom syndrome, Smith-Lemli-Opitz syndrome, and fetal alcohol syndrome. As there are few reports of this syndrome in the literature, we hope this case report will enable health professionals to recognize the phenotypic alterations of this syndrome, and allow early referral for the necessary multidisciplinary treatments.
Because of the importance of adaptive behaviors in social and domestic lives, this study aimed at a comparison of various domains of adaptive behaviors, between mentally retarded and normal individuals.
A number of 246 normal and 74 mentally retarded individuals (7-18 years of age, mean: 12±3.5 years), participated this study in Tehran, Iran. Their adaptive behaviors scores, were obtained using “Adaptive Behavioral Scale, Residential & Community” (ABS-RC: 2), consisting of 18 domains of behavior. The scale was first translated into Persian by the professionals and then retranslated into English by another translator, to ensure content non-distortion.
The following domains were significantly lower in mentally retarded than in normal individuals: independent functioning, economic activity, language development, number & time, prevocational/vocational activity, self-direction, responsibility, socialization, disturbing interpersonal behavior, domestic activity, social engagement, conformity and trustworthiness. No significant difference was documented in the physical development, stereotype & hyperactive behaviors, sexual behavior as well as self abuse behavior domains, between the two groups.
As mentally deficient subjects did worse than normal ones in terms of many adaptive behavioral domains, it implies that the adaptive behavioral issues in such people might need a great deal of attention and intervention. For these retarded people to function better in their social and residential environment, it would be necessary to develop their adaptive behaviors. This study may shed light on the importance of attention to the adaptive behavioral domains of mentally retarded people and also indicates the necessity of preventive measures, even for normal individuals.
Adaptive behaviors; Behavioral domains; Mental retardation; Prevention
Most of the autistic disorder patients are also mentally retarded and many mentally retarded persons exhibit autistic symptoms. By using a standard instrument (Ritvo-Freeman Real Life Rating Scale) the autistic features of the mentally retarded children were studied. The study also examined the influence of age, sex and level of mental retardation on the occurrence of autistic symptoms. Children who came for consultation to child psychiatric unit were compared with those at a school for children with mental retardation receiving stimulation. Male children from child psychiatric unit had significantly higher scores than those from the school. Social and language impairment could be reliably identified and grouped. It was possible to diagnose the syndrome of autism in children with mental retardation in a significant number (9.6%)as compared to that was possible only clinically (1.9%). More number of children with severe/ profound mental retardation could be diagnosed as autistic. The autistic syndrome in children with mental retardation can be picked up more effectively by the use of structured instrument.
Autism; mental retardation
The mental retardation, autistic features, and behavioral abnormalities characteristic of the Fragile X mental retardation syndrome result from the loss of function of the RNA–binding protein FMRP. The disease is usually caused by a triplet repeat expansion in the 5′UTR of the FMR1 gene. This leads to loss of function through transcriptional gene silencing, pointing to a key function for FMRP, but precluding genetic identification of critical activities within the protein. Moreover, antisense transcripts (FMR4, ASFMR1) in the same locus have been reported to be silenced by the repeat expansion. Missense mutations offer one means of confirming a central role for FMRP in the disease, but to date, only a single such patient has been described. This patient harbors an isoleucine to asparagine mutation (I304N) in the second FMRP KH-type RNA–binding domain, however, this single case report was complicated because the patient harbored a superimposed familial liver disease. To address these issues, we have generated a new Fragile X Syndrome mouse model in which the endogenous Fmr1 gene harbors the I304N mutation. These mice phenocopy the symptoms of Fragile X Syndrome in the existing Fmr1–null mouse, as assessed by testicular size, behavioral phenotyping, and electrophysiological assays of synaptic plasticity. I304N FMRP retains some functions, but has specifically lost RNA binding and polyribosome association; moreover, levels of the mutant protein are markedly reduced in the brain specifically at a time when synapses are forming postnatally. These data suggest that loss of FMRP function, particularly in KH2-mediated RNA binding and in synaptic plasticity, play critical roles in pathogenesis of the Fragile X Syndrome and establish a new model for studying the disorder.
Missense mutations in human genes provide valuable insight into the genetic causes of disease. Fragile X Syndrome (FXS), a common genetic cause of autism and mental retardation, is usually caused by transcriptional silencing of the FMR1 gene. The potential importance of single patient with a missense mutation (I304N) in an RNA–binding domain of the Fragile X protein, FMRP, has been questioned in part because he has a confounding liver disease. We introduced the I304N mutation into the endogenous Fmr1 locus to create a mouse model of Fragile X Syndrome. We find that this mutation results in behavioral, electrophysiologic, and phenotypic features of the disease, loss of binding to RNA targets in the brain, and lower FMRP levels at a critical time during synapse formation. We conclude that loss of RNA binding and underexpression of FMRP are sufficient to cause the Fragile X Syndrome.