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.
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.
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
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
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.
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.
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
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.
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.
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
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder characterized by episodes of fever and the inability to sense of pain despite the fact that all other sensory modalities remain intact or minimally impaired. The patient also may exhibit the signs of self-mutilation, mental retardation and little or no perspiration. We present a 10 years old Iranian patient diagnosed with CIPA with the above-mentioned clinical characteristics. The prosthetic treatment and the subsequent six month follow-up are discussed. Follow-up of the patient revealed that, with the use of this prosthesis, the patient’s oral function and esthetics were established and the mouth lesions improved. Therefore especial dental management of CIPA patients according to their mental status, age, oral and dental condition is essential for solving the specific problems each case may present and the full mouth teeth extraction should be considered as the last treatment.
Congenital; Insensitivity; Pain; Anhidrosis; Iran
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
We report the anaesthetic management of a 48-year-old male patient with Deafness, Onycho-Osteodystrophy and mental Retardation syndrome, epilepsy and cerebral palsy who had two dental procedures under anaesthetic care. For the first short examination sedoanalgesia was employed and the second, longer, procedure was performed under general anaesthesia. His airway management was moderately difficult and the postoperative period was complicated by partial seizures involving the upper extremity and a short period of decreased oxygen saturation. The potential anaesthetic implications of Deafness, Onycho-Osteodystrophy and mental Retardation syndrome are highlighted.
Johanson-Blizzard syndrome (JBS) is a rare autosomal recessive condition associated with exocrine pancreatic insufficiency, and is characterized by hypoplastic nasal alae, mental retardation, sensorineural hearing loss, short stature, scalp defects, dental abnormalities and abnormal hair patterns. Growth hormone deficiency, hypopituitarism, and impaired glucagon secretion response to insulin-induced hypoglycemia have been reported. Congenital heart defects have also been described in this condition. Mental retardation is typically moderate to severe in patients with JBS; however, normal intelligence can occur. In the pancreas, there is a selective defect of acinar tissue, whereas the islets of Langerhans and ducts are preserved. Diabetes has been reported in older children, suggesting the progressive nature of pancreatic disease. The molecular basis of JBS has recently been mapped to chromosome 15q15-q21 with identified mutations in the UBR1 gene. We report the case of a 7-year-old female with pancreatic insufficiency and mild phenotypic features, in whom the diagnosis of JBS was established using recently described molecular testing for the UBR1 gene.
Johanson-Blizzard syndrome; Pancreatic insufficiency; Sensorineural hearing loss; UBR1 gene
Monoamine oxidase (MAO) exists as two isoenzymes and plays a central role in the metabolism of monoamine neurotransmitters. In this study we compared the neurochemical phenotypes of previously described subjects with genetically determined selective lack of MAO-A or a lack of both MAO-A and MAO-B with those of two subjects with a previously described X chromosome microdeletion in whom we now demonstrate selective MAO-B deficiency. Mapping of the distal deletion breakpoint demonstrates its location in intron 5 of the MAO-B gene, with the deletion extending proximally into the Norrie disease gene. In contrast to the borderline mental retardation and abnormal behavioral phenotype in subjects with selective MAO-A deficiency and the severe mental retardation in patients with combined MAO-A/MAO-B deficiency and Norrie disease, the MAO-B-deficient subjects exhibit neither abnormal behavior nor mental retardation. Distinct neurochemical profiles characterize the three groups of MAO-deficient patients. In MAO-A-deficient subjects, there is a marked decrease in deaminated catecholamine metabolites and a concomitant marked elevation of O-methylated amine metabolites. These neurochemical changes are only slightly exaggerated in patients with combined lack of MAO-A and MAO-B. In contrast, the only biochemical abnormalities detected in subjects with the MAO-B gene deletion are a complete absence of platelet MAO-B activity and an increased urinary excretion of phenylethylamine. The differences in neurochemical profiles indicate that, under normal conditions, MAO-A is considerably more important than MAO-B in the metabolism of biogenic amines, a factor likely to contribute to the different clinical phenotypes.
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.
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.
Elderly patients presenting cardiovascular, respiratory, or neurological disorders require a specific dental care approach, especially patients presenting Alzheimer’s disease. Sedative procedures can prevent dental care-induced stress, even when there is effective pain control, but they have to be adapted to accommodate age-induced physiological modifications, age-related pathologies, and the concomitant treatments. In many situations, routine sedative prescriptions for dental care, such as benzodiazepine or antihistaminics, are not recommended for these patients. Nitrous oxide inhalation together with a specific behavioral threshold is currently the only sedative procedure adapted to cognitively-impaired elderly patients. Nitrous oxide is able to curb stress and its cardiovascular consequences, improve oxygenation, and optimize cooperation during dental care, making not only rehabilitation treatments but also routine dental care a viable option.
nitrous oxide; oxygen; premix; sedation; gerodontology; dental care
Rett Syndrome (RS) is a chromosome X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands. It is also associated with profound mental retardation and almost exclusively affects females.
A four and a half year old girl reported to our dental OPD for a dental checkup. On complete examination, she was diagnosed to be suffering from Rett Syndrome. Preventive therapies and proper oral hygiene instructions were explained to her mother.
Early diagnosis of such disorders is extremely important along with treatment of patients' problems with love and care to prevent them from further pain and stress.
Rett Syndrome; stereotypic hand movements; behavior therapy
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
Sanjad-Sakati syndrome (SSS) is a rare genetic disorder with autosomal recessive pattern of inheritance characterized by hypoparathyroidism, sever growth failure, mental retardation, susceptibility to chest infection, and dentofacial anomalies. A child with SSS was referred to the dental departmentseeking dental help for sever dental caries which was attributed to his dietary habits and quality of dental tissues. Full restorative rehabilitation was done under general anesthesia. Two years later, the child presented with recurrent caries affecting uncrowned teeth. High carries recurrence rate was blamed for the nutritional habits endorsed by the parents. Only steel crowned teeth survived such hostile oral environment which suggested shifting of treatment strategy towards full coverage restorations instead of classical cavity preparations and fillings during a second attempt for dental treatment under general anesthesia and for the dental treatment of two cousins of the same child. The author recommends effective health education for parents including the nature of their child's genetic disorder, nutritional needs, and dental health education to improve the life style of such children.
Fear of dental procedures deters many individuals with mental retardation from accepting dental treatment. This study was conducted to assess the effectiveness of two procedures, in vivo desensitization and video modeling, for increasing compliance with dental procedures in participants with severe or profound mental retardation. Desensitization increased compliance for all 5 participants, whereas video modeling increased compliance for only 1 of 3 participants.