Rosane Lowenthal

Autism and the Grand Challenges in Global Mental Health

There is increasing recognition of the global burden related to mental and neurological conditions greatly surpassing many health conditions such as cardiovascular disease and cancer. Recently, partnership among leading funders and academics has given rise to the grand challenges in global mental health initiative, aiming to reduce the global burden associated with mental and neurological conditions [Collins et al., 2011]. Among the actions of this initiative was a priority-setting exercise to articulate the most pressing challenges research in this area needs to address. Representing a diverse group of researchers and practitioners, we collectively considered progress and barriers in these priorities as they apply to autism research. In this editorial, we describe, based on our knowledge of and direct experience with autism in lowand middle-income countries (LMICs), the state of the science corresponding to the grand challenges and offer suggestions for how a truly global approach to autism research can bridge knowledge gaps leading to substantive improvements in quality of life for those affected wherever they may be.

Autism spectrum disorder in Down syndrome: definition of the cutoff point for the autism screening questionnaire screening instrument.

To the Editor: Recently, an article on the prevalence of autism spectrum disorder (ASD) in Down Syndrome (DS)1 has been published. The aforementioned work discusses the sensitivity and specificity of 2 instruments used for the screening of ASD in a population with mental retardation, particularly DS, and suggests that the instruments currently available for diagnosis of ASD have low specificity. Our research group (Lowenthal et al) had already evaluated a sample of 228 individuals with DS in the city of Curitiba, capital of the state of Paraná, in the south of Brazil and had found increased prevalence of ASD (14.5% in our study vs 18.2% in the study by DiGuiseppi et al) being 4.9% for autism (6.4% in the study by DiGiuseppi et al). In a more recent study, DiGiuseppi et al1 discuss the implications of the higher sensitivity of the instruments at the expense of specificity. In this sense, we have decided to reexamine the Brazilian DS cohort,2 looking into new possibilities with respect to the specificity of one of the instruments used, the Autism Screening Questionnaire (ASQ). The preliminary validation study of the Brazilian version of the ASQ had suggested the same cutoff points as those of the original study (without ASD [ 15], with ASD [ 15 and 21], and autism [ 22])3 in a cohort of 120 participants (40 ASD, 40 DS, and 40 other psychiatric disorders).4 First, we decided to verify the sensitivity and specificity of the cutoff point 15 applied to our sample. A sensitivity of 88.2% and a specificity of 53.3%, with good ability to recognize ASD cases (p 0.021), were found. To search for new cutoff points for this DS/ASD population, a classification analysis by decision tree test confirmed by receiver operator characteristic curve was accomplished, which furnished a cutoff point of 18, in which sensitivity and specificity were 76.5% and 93.3%, respectively (area below the curve 0.884). Despite the decreased sensitivity, this increase in the cutoff point allowed for higher specificity, which should provide this screening instrument with improved psychometric property. Many of the symptoms that are part of the ASD screening instruments are very common in subjects with intellectual disability, which can cause individuals with DS to present with isolated symptoms, thereby justifying the elevation of the ASQ cutoff point during screening of ASD cases. For this reason, an instrument with higher specificity should avoid problems with identification of false positives, which have financial implications and result in burden for the families,1 especially in investigations involving large cohorts of patients. The increased frequency of ASD in DS suggests that large epidemiologic studies should be performed on this population. As in the case of studies on other associations between low-frequency pathologies, such large studies on ASD/DS would probably facilitate the search for genes and polymorphisms associated with ASD, thus aiding better understanding of the development of the social brain in individuals with DS. Finally, screening instruments adapted for investigations on specific populations are mandatory.

Developmental disability in schoolchildren from four Brazilian regions

Child developmental disability (CDD) is an emerging global health priority. More than 140 million children live with a disability in unfavorable socioeconomic conditions worldwide. A review including 80 papers documented a lack of high-quality research into CDD. Few of these studies were conducted in Latin America, and the only Brazilian epidemiological study was focused on hearing loss. A review of intellectual disabilities found no prevalence studies conducted in Brazil. Moreover, until now, no study has addressed CDD in different areas of the country. This is especially problematic in a large country such as Brazil, with great differences between regions. Another important study on disability was carried out with 191,199 children from 18 low-income countries and demonstrated a high prevalence of disability (median: 23%; range: 3-48%), according to the Ten Question Screen (TQ). Of the 18 countries included, only three were in Latin America. The absence of epidemiological data on CDD in Brazil is a barrier to the development of effective policies. In the last few years, the Brazilian government has launched several programs related to CDD, but the magnitude of the problem is still unknown. Here we present data from the first study to address CDD in different geographic regions of Brazil. This crosssectional study included a random sample of 905 children (6-9 years old) recruited from public elementary schools in four Brazilian municipalities in four different regions (North, Northeast, Center-West, and Southeast), whose parents were interviewed face-to-face using the TQ. The TQ consists of 10 yes/no questions that screen for functional limitations in the domains of speech, cognition, hearing, vision, motor/physical impairment, and seizure disorders. This instrument is based on parent report and has been validated in several countries using a cutoff point of one or more positive items. It is applicable to children aged 2-9 years in most cultural settings, and is one of the most commonly used instruments worldwide. The local Research Ethics Committee approved the project. Using a cutoff point of one or more positive TQ items, the prevalence of child developmental disability was 38.5% (Table 1). There were no differences in rates among the studied regions (p = 1.9). The prevalence of CDD in our sample was higher than the median obtained in the most comprehensive international study. This rate is higher than that estimated in Jamaica (24%), similar to that found in Suriname (39%), and slightly lower than that found in Belize (44%). It is noteworthy that the TQ is a screening tool, and no standardized procedure was carried out to confirm true disability. Nevertheless, this estimate reveals a high proportion of children who probably need special care and experience consequences associated with disabilities, such as stigmatization and lack of opportunities. In conclusion, identification of CDD is important to help minimize obstacles to healthy child development. This is a first step to help focus government attention on the need to develop appropriate social, health, and educational programs. Given the recent growth in economic development in Brazil, the country now has more resources, and these data should guide the development of policies and the fair allocation of funds.