Absence Of Mental Retardation Research Articles

Alström Syndrome with Early Vision and Hearing Impairement

Alström syndrome (ALMS) is an autosomal recessive disorder characterized by multiple organ involvement, including progressive cone-rod dystrophy, sensorineural hearing loss, childhood obesity, and type 2 diabetes mellitus. Pathogenic variants in the ALMS1 gene are the known cause for the occurrence of this devastating condition. Here we report on a 12 year old boy referred to the University Clinic with early signs of impaired hearing and vision, obesity, and scoliosis. Central vision was first affected, followed by peripheral vision. In addition, his weight began increasing after the age of two years, reaching 78 kg at a height of 157 cm (BMI 31.64). No polydactyly was present. His mental development was normal in spite of his hearing and vision impairments. There was acanthosis nigricans on the neck. ECG and the cardiac ultrasound were normal. At the age of 12 years, his testicles are 12 ml and his pubertal status is P2 A2. OGTT revealed impaired glucose tolerance with elevated insulin concentrations 121ulU/mL (reference range 2,00-29,1 ulU/mL). Renal function was unaffected, liver functions were normal. Uric acid and lipids were within normal plasma concentrations. A Whole Exome Sequencing was performed and a homozygous ALMS1 pathogenic, frameshift gene variant (LRG_741t1(ALMS1):c.4156dup; p.Thr1386AsnfsTer15) was determined as the cause of the disease. Both parents were carriers for the variant. The absence of mental retardation and polydactyly differentiates Alström and Bardet-Biedle syndrome.

Assessment of long-term quality of life in patients with syndromic craniosynostosis

Several studies have analyzed the long-term stability of cranioplasty and midface distraction in patients with craniosynostosis; however, few studies have investigated long-term quality of life (QOL) and complications in adults with syndromic craniosynostosis. This study aimed to investigate the QOL (social, physical, and psychosocial) of patients with adult syndromic craniosynostosis. Patients aged ≥20 years with syndromic craniosynostosis, who were surgically treated at a single craniofacial institution, were included in this study. We investigated everyday inconvenience (using the World Health Organization Disability Assessment Schedule questionnaire), any ongoing treatment, marital status, and number of children. Totally, 18 patients aged 22-48 years (mean: 31.4 ± 9.2 years) answered the questionnaire (Crouzon syndrome, 9; Apert syndrome, 5; Pfeiffer syndrome, 4). Of these, only one Crouzon syndrome patient was married; she was also the only one with a child. Apert syndrome patients were found to have difficulty in understanding, communication, and self-care because of their mental retardation and hand and foot handicaps; however, their participation in society was the most aggressive. In contrast, Crouzon syndrome patients had especially poor participation in society. In all patients, any ongoing hospital treatment was due to ophthalmological conditions. Crouzon syndrome patients have extremely poor QOL; the absence of mental retardation and hand and foot handicaps forces them to live in mainstream society, for which they are emotionally ill-equipped. It is necessary to treat these patients without any residual deformity to provide psychological support and to create an accepting society.

Psychomotor, speech and mental development in children with infantile cerebral paralysis

Purpose of the study . Optimization of the diagnostic algorithm of neuropsychic development in the context of primary pediatric and specialized neurological care on the basis of analysis of the formation of psychomotor, speech and mental abilities in children with infantile cerebral paralysis, formed on the background of hypoxic-ischemic and hypoxic-hemorrhagic perinatal CNS damage. Materials and methods . The article presents an assessment of psychomotor, speech and mental development of 81 children with infantile cerebral paralysis (ICP): 50 patients with hypoxic-ischemic central nervous system damage and 31 patients — with hypoxic-hemorrhagic central nervous system damage. Results . PSlowing of psychomotor development (SPD) was diagnosed in 98.8% of cases. The greatest percentage of children with SPD was noted in children under 1 year of age — 40%. The majority of children with SPD are noted under age 2. The amount of children with the delay in speech development (DSD) was 93.8%. DSD was absent in 5 (6.2%) patients. In children under 1.5 years of age, DSD was noted in 34.2% of all cases, while in the group with hypoxic-ischemic damage (HID) of the central nervous system — 47.9% and only 10.7% — in children with hypoxic-hemorrhagic damage (HHD) of the central nervous system(p < 0.01). At the age of 1.6 up to 2 years, the proportion of children with DSD from the group with HID of the central nervous system was 35.4%, and in the group with HHD of the central nervous system — 82.1% (p < 0.01). Mental retardation (MR) was noted in 28.4% of children. The severe and deep forms of MR were 2 times higher in groups with HHD of the central nervous system (22.2 and 11.1%, respectively). Other mental disorders, caused by brain dysfunction, were diagnosed in 50.6% of patients. The absence of MR and other mental disorders was noted in 21% of cases. Conclusion . Presumably, the cause of high detectability of SPD in children under 2 years of age is late evaluation of the child’s speech abilities by parents . The presence of MR in 1/3 of all children under study, and the presence of other mental disorders in 50.6% of patients, indicates a significant proportion of developmentally delayed children with infantile cerebral paralysis (ICP).

Clinical and Radiologic Diagnosis of a Patient with Maroteaux-Lamy Syndrome

Background: Diagnosis of rare diseases or disorders is understandably challenging because it is unfeasible for practicing physicians to make themselves familiar with hundreds of rare diseases. The diagnosis of rare inherited metabolic syndromes such as mucopolysaccharidoses is additionally complicated by the lack of confirmatory sophisticated laboratory tests in many areas of the world. In the more developed countries, the diagnosis of mucopolysaccharidoses depends on urine tests for excessive mucopolysaccharides and enzyme assays. However, these tests are not easily accessible in countries like Iraq, and the diagnosis has to rely on clinical and radiological findings. Case Report: The clinical and radiologic diagnosis of an Iraqi patient with Maroteaux-Lamy syndrome is described. The clinical diagnosis of the girl with early-onset mucopolysaccharidosis and the abnormalities were recognizable before the age of two. The clinical and radiologic diagnosis was Maroteaux-Lamy syndrome because of the absence of mental retardation and the presence of hepatosplenomegaly. Conclusion: Clinical diagnosis of rare metabolic syndromes like mucopolysaccharidoses requires magnificent clinical skills and huge experience because of the similarity between various types of mucopolysaccharidoses.

Some children with autism have latent social skills that can be tested.

BackgroundThe idea of latent social skills in autism emerged as a possible interpretation of the rapid (but temporary) improvement of autistic subjects in oxytocin studies. We tested a hypothesis that a normal response to Item No 59 “Secure Base” from the third version of the Autism Diagnostic Interview – Revised (ADIR-59) could indicate the presence of latent social skills in autism.MethodsWe examined 110 autistic children (88 boys and 22 girls) with a mean age of 6.0±2.5 years (range: 2.2–14.8 years) using the Autism Diagnostic Observation Schedule (ADOS) – Generic. A diagnosis of mental retardation was established in 68 autistic children (62%).ResultsThe difference in the ADOS social domain between children aged ≤5 years on one side and children older than 5 years on the other side was significant in subjects with normal responses to ADIR-59 (9.60 vs 6.47; P=0.031) but not in those with abnormal responses to ADIR-59 (10.62 vs 9.63; P=0.537). In a predictive model, lower ADOS social domain scores were predicted by older age (P=0.001), lower scores on the ADIR-59 (P=0.01), and the absence of mental retardation (P=0.049).ConclusionThe results support the hypothesis that the normal response to item ADIR-59 “Secure Base” indicates the presence of latent social skills in autism that might foretell further social growth in older autistic subjects.

Autosomal dominant Kenny-Caffey syndrome with congenital hypoparathyroidism, short stature and normal intellect: a case report

Kenny-Caffey syndrome (KCS) is characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. The autosomal dominant form (KCS Type 2) caused by mutations in FAM111A is distinguished from the autosomal recessive form (KCS Type1), caused by mutations in TBCE gene, by the absence of mental retardation. Our proband presented on day 8 of life with hypocalcaemic seizures secondary to hypoparathyroidism. Normocalcaemia was achieved with IV calcium gluconate and maintained by oral calcium carbonate 100mg BD and calcitriol 0.1mcg BD for the first 2 years of life while serum PTH remained low at <0.3pmol/L. There has been no evidence of nephrocalcinosis on follow up. The dose of supplemental calcium and calcitriol is being gradually reduced. She also has persistent mild microcytic anaemia with normal iron stores. Her phenotype included small hands and feet, triangular hypoplastic and dystrophic nails, hypoplastic mid-face, macrocrania and large persistent fontanelles. Karotype and FISH for 22q11 deletion were normal. Initial investigations included a normal ECHO, renal ultrasound and MRI brain. Her neurodevelopment is normal but her growth is compromised. At 1 year, her length was 65.5cms (SDS -2.9) and at 3 years, her height was 80cms (SDS -3.8). There is no family history of short stature or hypoparathyroidism. She is growth hormone sufficient on pharmacological testing; however she has been commenced on growth hormone treatment based on her poor growth velocity and short stature. It is currently too early to determine response. A skeletal survey performed at 2 years of age was suggestive of KCS. Genetic testing revealed a heterozygous mutation c.1622C>A (p.Ser541Tyr) in FAM111A. However, the unusual nails, the reducing calcium requirement and the unexplained microcytic anaemia are unique to our patient. Written informed Consent for this patient has been taken including results of the genetic analyses and images according to the Institutional Ethics Committee procedures of our health service.

Mood symptoms in children and adolescents with autism spectrum disorders

Asperger Syndrome (AS) and High Functioning Autism (HFA) are psychiatric conditions belonging to the Autistic Spectrum Disorders (ASDs), characterized by social dysfunction and focused interest, in the absence of mental retardation. Previous reports suggest that AS/HFA may be associated with important psychiatric comorbidities. Among the psychiatric internalizing disorders, depression and anxiety are probably the most common disorders. The aim of this study is to evaluate the prevalence of mood disorders and identifying peculiar clinical features in subjects suffering from AS and HFA. 30 male patients with AS/HFA, 30 male patients affected by Major Depression (MD) and 35 male Typically Developing (TD) comparison were assessed with the CDI and the CDRS-R. Participants' parents were invited to complete the CBCL and the P-YMRS. Moreover, the CGAS was rated by the clinicians. The evaluation of depressive symptoms showed that AS/HFA group reported higher depressive symptoms, as showed by CDI total, CBCL internalizing and CDRS-R total, compared to the TD group. No significant difference of depressive symptoms was found between the AS/HFA and the MD group, with the exception of CDRS-R total score. Moreover, linear regression analysis in the AS/HFA group between CGAS and depressive symptoms revealed that a higher level of depressive symptoms increased the risk of poorer global functioning. These results suggest that the depressive symptoms in AS/HFA patients may be associated with poorer global functioning, with a consequent impairment in their psychological profile and social adjustment, and should alert clinicians to the importance of assessing mood disorders in order to choose the appropriate treatment.

A recurrent de novo FAM111A mutation causes kenny–caffey syndrome type 2

Kenny-Caffey syndrome (KCS) is a rare dysmorphologic syndrome characterized by proportionate short stature, cortical thickening and medullary stenosis of tubular bones, delayed closure of anterior fontanelle, eye abnormalities, and hypoparathyroidism. The autosomal dominant form of KCS (KCS type 2 [KCS2]) is distinguished from the autosomal recessive form of KCS (KCS type 1 [KCS1]), which is caused by mutations of the tubulin-folding cofactor E (TBCE) gene, by the absence of mental retardation. In this study, we recruited four unrelated Japanese patients with typical sporadic KCS2, and performed exome sequencing in three patients and their parents to elucidate the molecular basis of KCS2. The possible candidate genes were explored by a de novo mutation detection method. A single gene, FAM111A (NM_001142519.1), was shared among three families. An identical missense mutation, R569H, was heterozygously detected in all three patients but not in the unaffected family members. This mutation was also found in an additional unrelated patient. These findings are in accordance with those of a recent independent report by a Swiss group that KCS2 is caused by a de novo mutation of FAM111A, and R569H is a hot spot mutation for KCS2. Although the function of FAM111A is not known, this study would provide evidence that FAM111A is a key molecule for normal bone development, height gain, and parathyroid hormone development and/or regulation.

Social skills improvement in children with high-functioning autism: a pilot randomized controlled trial

High-functioning autism (HFA) is characterized by persistent impairment in social interaction despite the absence of mental retardation. Although an increasing number of group-based programs for the improvement of social skills have been described, randomized controlled trials are needed to evaluate their efficacy. To compare the effect of a Social Skills Training Group-based Program (SST-GP) and a Leisure Activities Group-based Program (LA-GP) on the perception of facial emotions and quality of life (QoL) in young people with HFA. Eligible patients were children and adolescents with HFA. Participants were randomized to the SST or LA group. The primary outcome was defined as an improvement of 2 points in error rates for facial emotion labeling (DANVA2) from baseline. After the 6-month training period, the SST Group made fewer errors in labeling anger on adult faces, whereas error rates in the LA Group remained stable. Progress in the ability to recognize anger in the SST Group was due to better recognition of low intensity stimuli on adult faces. QoL increased in the SST Group in the dimension of school environment, as a marker of the transfer of skills acquired in the treatment setting to their use in the community. The SST-GP had higher efficacy than the LA-GP. Data justify replication using larger samples.

Seizure outcome and complications following hypothalamic hamartoma treatment in adults: endoscopic, open, and Gamma Knife procedures

This study aimed at identifying outcomes with respect to seizures, morbidity, and mortality in adult patients undergoing resective or Gamma Knife surgery (GKS) to treat intractable epilepsy associated with hypothalamic hamartoma (HH). Adult patients undergoing surgical treatment for HH-related epilepsy were prospectively monitored at a single center for complications and seizure outcome by using a proprietary database. Preintervention and postintervention data for patients 18 years of age and older, and with at least 1 year of follow-up, were analyzed, with specific attention to seizure control, complications, hormonal status, and death. Forty adult patients were found in the database (21 were women). The median HH volume was 0.54 cm(3). In 70% of patients, it was located inside the third ventricle, attached unilaterally and vertically to the hypothalamus (Delalande Type II). Most patients (26) underwent an endoscopic resection, 10 patients had a transcallosal or other type of open (pterional or orbitozygomatic) resection, and 4 patients chose GKS. Twenty-nine percent became seizure free in the long term, and overall a majority of patients (55%) reported at least > 90% seizure improvement. Only 3 patients were ultimately able to discontinue anticonvulsants, whereas most patients were taking an average of 2 antiepileptic drugs pre- and postoperatively. The only factor significantly correlated with seizure-free outcome was the absence of mental retardation. The HH volume, HH type, and amount of resection or disconnection were not correlated to seizure freedom. A total of 4 patients (10%) died, 2 immediately after surgery and 2 later. All of them had undergone a resection, as opposed to GKS, and still had seizures. Postoperatively, persistent neurological deficits were seen in 1 patient; 34% of patients had mild hormonal problems; and 59% experienced weight gain of at least 6.8 kg (average gain 12.7 kg). Surgical or GKS procedures in adults with HH provided seizure freedom in one-third of patients. The only significant favorable prognostic factor was the absence of mental retardation. The overall mortality rate was high, at 10%. Other important morbidities were persistent hormonal disturbances and weight gain.

Children With Heavy Prenatal Alcohol Exposure Demonstrate Deficits on Multiple Measures of Concept Formation

Children with heavy prenatal alcohol exposure have documented impairments in executive functioning (EF). One component of EF, concept formation, has not been well studied in this group. Children (8 to 18 years) with histories of heavy prenatal alcohol exposure, with and without fetal alcohol syndrome (FAS), were compared to typically developing controls on 2 measures of concept formation and conceptual set shifting: the Wisconsin Card Sorting Test and the Card Sorting Test from the Delis-Kaplan Executive Functioning System. In addition to between-group comparisons, performance relative to overall intellectual functioning was examined. Children with histories of heavy prenatal alcohol exposure showed impairment on both tests of concept formation compared to non-exposed controls. These deficits included difficulty generating and verbalizing concepts, increased error rates and perseverative responses, and poorer response to feedback. However, in comparison to controls, alcohol-exposed children performed better on measures of concept formation than predicted by their overall IQ scores. Exploratory analyses suggest that this may be due to differences in how the measures relate at different IQ levels and may not be specific to prenatal alcohol exposure. Deficits in concept formation and conceptual set shifting were observed in alcohol-exposed children with or without the diagnosis of FAS and in the absence of mental retardation. These deficits likely impact problem solving skills and adaptive functioning and have implications for therapeutic interventions in this population.

Deficits in Social Problem Solving in Adolescents with Prenatal Exposure to Alcohol

This study evaluated the social problem solving skills of adolescents with histories of prenatal alcohol exposure. Adolescents (28 alcohol-exposed, 15 controls) completed a standardized questionnaire of social problem solving, and caregivers completed a parent-report measure of executive functioning. Both questionnaires were mailed to families, and caregivers were asked to recruit a non-exposed control. Results suggest that alcohol-exposed adolescents have substantial impairments in their abilities to solve problems in their everyday life, even in the absence of mental retardation. Such impairments are likely to have a significant impact on social and academic functioning and reflect their need for critical services otherwise unavailable to them.

Defining the Behavioral Phenotype of Asperger Syndrome

Asperger syndrome (AS) is characterized by social deficits and restricted interests in the absence of mental retardation and language delay. However, it is unclear to what extent the social deficits of AS differ from those of traditional autism. To address this issue, 58 subjects with AS were compared with 39 subjects with autism. Social deficits were classified according to Wing and Gould's method. Forty-six (79%) subjects with AS were rated as active but odd, while 32 (82%) with autism were described as aloof and passive, while a few subjects showed mixed features. Thus, despite the overlap between AS and autism, subjects with AS showed a distinct pattern of social impairment. Implications of these findings are discussed.

We-P11:127 Obesity and its association with other cardiovascular risk factors in women in Central Iran — Women's healthy heart project

INTRODUCTION: Cardiovascular diseases (CVD) are considered the most important cause of death worldwide. Obesity is a major CVD risk factor. This study was conducted to evaluate the prevalence of obesity and its association with other CVD risk factors in Iranian women. METHODS: This cross-sectional study was conducted in 2001 as part of Isfahan Healthy Heart Program (IHHP) in three Central Iranian cities of Isfahan, Najaf-Abad and Arak. Being over 19 years of age, absence of pregnancy, absence of mental retardation and Iranian nationality were the criteria for inclusion in the study. A questionnaire on demographics characteristics, drug consumption, smoking status, and physical activity were filled out for every subject. Height, weight and blood pressure of all subjects were measured and fasting blood samples were taken to measure blood glucose and lipids. The data were analyzed with T-test, χ2 and multiple linear regression, using SPSS11. RESULTS: Of 6391 women aged 38.8±14.5 years participating in the study, 79% lived in the urban areas and 21% in the rural areas. The prevalence of a higher BMI was greater in urban areas in all ages. Hypertension, diabetes, total cholesterol-triglyceride and LDL-C disorders and inadequate physical activity were more prevalent in obese women than normal ones, but no significant difference was seen in HDL-C disorder and smoking between the two groups (P<0.05). There was a significant positive relationship between BMI and age, blood glucose and urban residence, and a negative relationship was observed between BMI and inadequate physical activity (P<0.05). DISCUSSION: The high prevalence of obesity and the major risk factors of cardiovascular diseases in urban areas is testament to unhealthy lifestyle and insufficient physical activity of women in areas studied.

Ictal movement disorders and hypothalamic hamartoma

We report the case of a woman presenting with unusual, symptomatic epilepsy related to a hypothalamic hamartoma, in the absence of mental retardation or precocious puberty. The seizures manifested themselves clinically as characteristic, paroxysmal movement disorders, such as choreic/ballistic movement. This type of phenomenon is rarely of epileptic origin: we thus suggest that the movement disorder observed here could be due to functional disorganization of the basal ganglia network by the epileptic discharge, causing loss of the inhibition of thalamic activity and thus allowing the occurrence of abnormal movements. [Published with videosequences]

Outlining the Concerns of Children Who Have Hearing Loss and Their Families

Nationwide, there are some 1,055,000 young people under the age of 18 who have hearing loss according to statistics from the National Institute on Deafness and Other Communication Disorders (http://www.nidcd. nih.gov). Reported rates of psychiatric disorders for children who have hearing loss range from 15.4% to 54% (Hindley, 1997). Selected factors that have been correlated with these prevalence rates include the etiology of the child’s hearing loss, the presence or absence of mental retardation, the severity of the child’s hearing loss, the child’s language fluency, and the degree of stability within the child’s family situation. Clinicians who work with children with hearing loss will encounter a wide diversity within the group. There is notable variance in learning style and dramatic differences in personality and social development. Some of the children may learn American Sign Language and become a part of a cultural group that is quite distinct from that of their parents. Parents of all children who have hearing loss will also face a variety of unique dilemmas. Child and adolescent psychiatrists must be aware of numerous population-specific variables that may increase the risk of developing mental health disorders and influence treatment outcomes. These factors begin at birth. READING INFANT CUES Newborn hearing screening is not yet universal in the United States. Hence, there often is a delay in identification of a child’s hearing loss (YoshinagoItano, 1998). The parent–infant attachment process can become radically derailed when hearing loss is not identified in a timely manner. When parents do not know that their infant has a hearing loss, they may respond in ways that frequently are not mutually satisfying. Infants with hearing loss will not be soothed by a parent’s verbal reassurance as readily as a normally hearing infant will. The infant and the parent soon become “out of synch” with reading each other’s communication cues if appropriate intervention strategies are not implemented in a timely fashion.

Psychopathology and mental retardation: a study using the Rorschach Inkblot Test.

The aim of this research was to study the psychological effects of disorders such as schizophrenia and depression associated with mental retardation. The Rorschach Inkblot Test and the Wechsler Adult Intelligence Scale were administered to a group of 97 subjects (52 women and 45 men) ages 15:10 yr. to 36:6 yr. (M=21:5, SD=5:3). The subjects were divided into four subgroups according to the presence or absence of mental retardation and psychiatric diagnosis (schizophrenia versus depression). The quality of the perception in Rorschach responses and the ErlebnisTypus scores differentiated psychotic and depressed subjects well. These disorders, when associated with mental retardation, make impairment of perceptual performance worse. The interaction between Axis I mental disorders (according to DSM-IV diagnosis) and mental retardation, an Axis II disorder, is discussed.

Recessive ataxia with ocular apraxia: review of 22 Portuguese patients.

The recessive ataxias are a heterogeneous group of neurodegenerative disorders characterized by cerebellar ataxia associated with a number of different neurologic, ophthalmologic, or general signs. They are often difficult to classify in clinical terms, except for Friedreich ataxia, ataxia-telangiectasia, and a relatively small group of rare conditions for which the molecular basis has already been defined. To study the clinical presentation and to define diagnostic criteria in a group of Portuguese patients with ataxia and ocular apraxia, an autosomal recessive form without the essential clinical and laboratory features of ataxia-telangiectasia. We reviewed 22 patients in 11 kindreds, identified through a systematic survey of hereditary ataxias being conducted in Portugal. Age at onset ranged from 1 to 15 years, with a mean of 4.7 years. The duration of symptoms at the time of last examination varied from 5 to 58 years. All patients presented with progressive cerebellar ataxia, the characteristic ocular apraxia, and a peripheral neuropathy. Associated neurologic signs included dystonia, scoliosis, and pes cavus. Magnetic resonance imaging was performed in 16 patients, all of whom showed cerebellar atrophy. Ataxia with ocular apraxia may be more frequent than postulated before, and may be identified clinically using the following criteria: (1) autosomal recessive transmission; (2) early onset (for most patients in early childhood); (3) combination of cerebellar ataxia, ocular apraxia, and early areflexia, with later appearance of the full picture of peripheral neuropathy; (4) absence of mental retardation, telangiectasia, and immunodeficiency; and (5) the possibility of a long survival, although with severe motor handicap.

FISH studies in a girl with sporadic aniridia and an apparently balanced de novo t(11;13)(p13;q33) translocation detect a microdeletion involving the WAGR region

Conventional cytogenetic studies on a female infant with sporadic aniridia revealed what appeared to be a balanced de novo t(11;13) (p13;q33) translocation. Fluorescence in situ hybridization (FISH) investigations, however, detected the presence of a cryptic 11p13p14 deletion which included the WAGR region and involved approximately 7.5 Mb of DNA, including the PAX6 and WT1 genes. These results account for the patient's aniridia, and place her at high risk for developing Wilms' tumour. The absence of mental retardation in the patient suggests that the position of the distal breakpoint may also help to refine the mental retardation locus in the WAGR contiguous gene syndrome (Wilms', aniridia, genital anomalies and mental retardation).

Executive Functioning in Children With Heavy Prenatal Alcohol Exposure

Children with heavy prenatal alcohol exposure have well documented deficits in overall cognitive ability. Recently, attention has turned to the executive function (EF) domain in this population. Until recently, comprehensive measures of EF have not been available within one test battery. This study used a battery of tests to assess four domains of EF in alcohol-exposed children. The Delis-Kaplan Executive Function Scale was used to evaluate EF in 18 children with heavy prenatal alcohol exposure, with and without a diagnosis of fetal alcohol syndrome (FAS), and 10 nonexposed controls. Children ranged in age from 8 to 15 years. Measures from four domains of executive functioning were analyzed: planning ability, cognitive flexibility, selective inhibition, and concept formation and reasoning. Tasks consisted of primary EF measures as well as measures of secondary component skills. Alcohol-exposed children were deficient on EF measures compared with nonexposed controls. Furthermore, in most cases, children with and without the FAS diagnosis did not differ from one another. These deficits were not entirely explainable by concomitant deficits on component skills. Specific impairments were identified within the domains of planning and response inhibition, with additional deficits in abstract thinking and flexibility. Deficits in executive functioning were observed in alcohol-exposed children with or without the diagnosis of FAS and in the absence of mental retardation. Performance on these EF tasks provides insight into the cognitive processes driving overall performance and has implications for adaptive and daily functions. These results are consistent with anecdotal and empirical reports of deficits in behavioral control and with neuroanatomical evidence of volumetric reductions in structures within the frontal-subcortical system in children with heavy prenatal alcohol exposure.