Evidence Of Mental Retardation Research Articles

Autosomal Recessive Autism: Cure of the Major Autistic Features

Background: We have previously reported our extensive experiences with autism disorders and their treatments, and we showed the possibility of curing the major autistic features with a new therapeutic approach which included individualized courses of intramuscular cerebrolysin as the main therapy for the main autistic features. Our previously published experiences included observing the occurrence of atypical autism associated with evidence of mental retardation in four brothers from outside Baghdad, each two of them from two unrelated families. The four patients were treated based on our extensive published experiences with the pharmacological treatments of autism disorders; however, the follow-up and the outcome of treatments of these four children were not described in the previous publications. The aim of this paper is to report the cure of the major autistic features in 2 brothers with autosomal recessive autism. Patients and methods: It was possible to follow the first two brothers for only few weeks and to see them after the first course of treatment, however, the second brothers were followed for more than one year, and it was possible to achieve cure of the main autistic features. Results: After one short course, the first two brothers showed slight but noticeable improvement. The younger brother showed some reduction in autistic features as he developed rather an acceptable eye contact. However, the two brothers were still not responding to name and didn’t say any word. After, treatment, the second two brothers showed no autistic features, and experienced significant improvements in speech and cognitive functions. The older brother was not having autistic features after eighth months, and was obeying commands, but was still saying only few words. The younger brother joined primary school and was doing well apart from some behavioral problems especially running away from school and sometimes breaks things. Conclusion: In this paper, cure of autism has been achieved in two boys with autosomal recessive disorder. However, cure of autism in older children has never been expected to totally normalizes them, as the patients have already lost several years of learning, social adaptation, and maturation of personality and behavior.

Unilateral agenesis of internal carotid artery associated with congenital combined pituitary hormone deficiency and pituitary stalk interruption without HESX1, LHX4 or OTX2 mutation: a case report

Agenesis of internal carotid artery (ICA) is an unusual finding in subjects with congenital Combined Pituitary hormone deficiency (CPHD) with only nine cases being reported to date but to our best knowledge none of them was genetically investigated. A 10-years old girl presented with severe growth failure (height 103 cm) with substantial bone age delay (3 years). She had no history of perinatal insults or familial CPHD. There was no evidence of mental retardation or craniofacial dysmorphism or ophtalmological abnormalities. She was first diagnosed with GH and TSH deficiency. Cerebral magnetic resonance imaging (MRI) showed hypoplastic anterior pituitary, flat sella turcica, absent pituitary stalk with ectopic posterior pituitary as well as agenesis of the left ICA and the left carotid canal. Genomic analysis of pituitary transcription factor HESX1, LHX4 and OTX2 showed no mutations. Treatment with GH and thyroxine was started. The patient remained free of neurovascular symptoms for 5 years but she presented at the age of 15 years with delayed puberty related to an evolving gonadotropin deficiency. ICA agenesis associated with CPHD is unusual and is often asymptomatic in children. Since the CPHD with pituitary stalk interruption cannot be due to HESX1, LHX4 or OTX2 mutation in our case, other pathogenetic mechanisms may be responsible for CPHD associated with unilateral ICA agenesis.

A 14-year-old girl with Smith-McCort dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis

A 14-year-old girl with Smith-McCort dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis

A novel CASR mutation in a Tunisian FHH/NSHPT family associated with a mental retardation

The calcium-sensing receptor (CASR), a plasma membrane G-protein coupled receptor, is expressed in parathyroid gland and kidney, and controls systemic calcium homeostasis. Inactivating CASR mutations have previously been identified in patients with familial hypocalciuric hypercalcemia (FHH) and neonatal severe hyperparathyroidism (NSHPT). The aim of the present study is to determine the underlying molecular defect of FHH/NSHPT disease in a consanguineous Tunisian family. Mutation screening was carried out using RFLP-PCR and direct sequencing. We found that the proband is homozygous for a novel 15 bp deletion in the exon 7 (c.1952_1966del) confirming the diagnosis of NSHPT. All the FHH members were found to be heterozygous for the novel detected mutation. The mutation, p.S651_L655del, leads to the deletion of 5 codons in the second trans-membrane domain of the CASR which is thought to be involved in the processes of ligand-induced signaling. This alteration was associated with the evidence of mental retardation in the FHH carriers and appears to be a novel inactivating mutation in the CASR gene. Our findings provide additional support for the implication of CASR gene in the FHH/NSHPT pathogenesis.

Nature and Frequency of Aggressive Behaviours among Long-Term Inpatients with Schizophrenia: A 6-Month Report Using the Modified Overt Aggression Scale

Previous reports of violence rates in psychiatric settings varied substantially. The main goal of this preliminary study was to prospectively record all violent incidents committed by chronic inpatients with schizophrenia (Sz) using a validated instrument. A secondary objective was to confirm that a majority of violent inward incidents were not commonly serious and committed by a minority of recidivistic individuals suffering from neurological damage (ND). The French version of the Modified Overt Aggression Scale was introduced in all wards of a maximum security hospital to describe every violent incident committed by patients (n = 116) with diagnoses of Sz, Sz and ND, or Sz and mental retardation (MR) during a 6-month period (24 hours a day, 7 days a week). Fifty-seven percent of aggressive acts were committed by 15% of patients who were more likely to receive additional diagnoses of ND or MR. Violent patients with Sz and ND were involved in 6 incidents for each individual on average, although most of the incidents were verbal in nature (68%). A high rate (28%) of patients with Sz, without evidence of ND or MR, had assaulted someone at least once during the study period. These results explain in part the high diversity of previous violent rate reviews and support the notion that inward repetitive violence might be more closely related with ND and impulsivity than psychopathology.

Co-occurrence of Motor Problems and Autistic Symptoms in Attention-Deficit/Hyperactivity Disorder

To investigate the relation between parent reports of motor problems and clinically significant autistic symptoms in children with and without attention-deficit/hyperactivity disorder (ADHD). Subjects were male (n = 521) and female (n = 330) twins from an epidemiological study of ADHD, ages 7 to 19 years at assessment using the Child Behavior Checklist and semistructured psychiatric diagnostic interviews. Parent-rated Social Responsiveness Scale questionnaires were returned for 62% of 1,647 individuals who participated in interviews. After exclusion of subjects with incomplete data or evidence of mental retardation, 851 subjects (52%) were available for the present study analysis. Each subject was classified by DSM-IV ADHD subtype and assigned to one of seven population-defined ADHD subtypes based on latent class analysis of DSM-IV ADHD symptoms. Within each ADHD subtype, we examined the relation between Child Behavior Checklist motor problem endorsement and elevated autistic symptoms on the Social Responsiveness Scale. Motor problems and high levels of autistic traits were most common in individuals with combined-type ADHD. Within each of the clinically relevant DSM-IV and latent class ADHD subtypes, individuals with the combination of motor problems and ADHD were more likely to have high levels of autistic traits than those with ADHD alone. Children with the combination of ADHD and parent-reported motor coordination deficits have elevated levels of autistic symptoms. Targeted treatment and prevention interventions may be warranted. The exclusion criteria for DSM-IV ADHD should be revised to reflect these population-based findings.

Hyperphosphatasia with massive osteoectasia: a 45-year follow-up

Hyperphosphatasia is a heterogeneous group of disorders characterized by a generalized skeletal disease and increased alkaline phosphatase. Increased bone remodeling secondary to increased osteoclastic activity appears to be the underlying feature of these disorders. These disorders include juvenile Paget's disease, expansile skeletal hyperphosphatasia, hyperostosis generalisata with striations, and Camurati-Engelmann's disease, type II. The genetic mutations for a number of these disorders have been identified. We present a patient with congenital hyperphosphatasia whose clinical and radiographic features were somewhat different from these other well-defined syndromes. The patient was followed for 45 years until his death of at age 49. The patient had massive osteoectasia with dense striations involving the entire shaft of his long bones. His spine, pelvis, short tubular bones, and calvarium were also involved. He suffered hearing loss and optic atrophy, but he kept his teeth throughout his life. He was tall with a marfanoid habitus, and he had hypogonadism and hypothyroidism. There was no evidence of mental retardation, and other laboratory studies where within normal limits. This case, as well as other manifestations of hyperphosphatasia, attests to the complexity of the bone remodeling system.

Over- and Underdosage of SOX3 Is Associated with Infundibular Hypoplasia and Hypopituitarism

Duplications of Xq26-27 have been implicated in the etiology of X-linked hypopituitarism associated with mental retardation (MR). Additionally, an expansion of a polyalanine tract (by 11 alanines) within the transcription factor SOX3 (Xq27.1) has been reported in patients with growth hormone deficiency and variable learning difficulties. We report a submicroscopic duplication of Xq27.1, the smallest reported to date (685.6 kb), in two siblings with variable hypopituitarism, callosal abnormalities, anterior pituitary hypoplasia (APH), an ectopic posterior pituitary (EPP), and an absent infundibulum. This duplication contains SOX3 and sequences corresponding to two transcripts of unknown function; only Sox3 is expressed in the infundibulum in mice. Next, we identified a novel seven-alanine expansion within a polyalanine tract in SOX3 in a family with panhypopituitarism in three male siblings with an absent infundibulum, severe APH, and EPP. This mutation led to reduced transcriptional activity, with impaired nuclear localization of the mutant protein. We also identified a novel polymorphism (A43T) in SOX3 in another child with hypopituitarism. In contrast to findings in previous studies, there was no evidence of MR or learning difficulties in our patients. We conclude that both over- and underdosage of SOX3 are associated with similar phenotypes, consisting of infundibular hypoplasia and hypopituitarism but not necessarily MR.

Aspiration of Food by Psychiatric Patients

To the Editor.— As Mittleman and Wetli indicated in their article entitled The Fatal Cafe Coronary: Foreign-Body Airway Obstruction inThe Journal(1982;247:1285), their purpose was to isolate the factors predisposing a person to this cause of sudden death and, in this connection, found that their data showed a meaningful number of such fatalities in institutionalized persons with evidence of mental retardation or senility. However, they did not refer to accidental deaths of this sort in chronic schizophrenic patients, and, for this reason, I wonder whether they had not encountered this particular fatal syndrome in patients afflicted with this particular type of mental illness. For many years, both before and after the introduction of phenothiazines or other neuroleptic drugs, such a case of sudden death has been reported. In my discussion of this syndrome in my book, under the rubrics of alimentary strangulation, 1 I have emphasized that the important