Case Report

Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder

Table 3

Summary results of the comparative behavioral evaluation of TWO and TWX.

SubjectTests and measuresEvaluated dimensionsDiagnosis
Communication and languageSocializationBehavior patterns and interests Intellectual ability1

TWO(i) Parents/subject interview
(ii) PPVT-III
(iii) Leiter-R
(iv) ADI-R
(i) Strong limitations on communication and language
(ii) Great degree of echolalia, repeating everything he says, even playing the same tone of voice
(iii) Immediate echolalia of phrases that tell others, as well as echolalia of movie dialogues. Not maintaining reciprocal conversations with others
(iv) Not manifesting through language and communicating his moods
(v) Spontaneous verbal language not observed
(i) Enjoying verbal positive reinforcement (“good!,” “fantastic!,” “you are a champion!”) and physical (hitting hand or touching his back)
(ii) Able to imitate descriptive gestures such as “hello,” “throw a kiss,” “ok,” and “water” and facial expressions and actions like cry, laugh, and “be happy”
(iii) Able to recognize and pair “happy” and “sad” emotions in pictures and images
(i) Some stereotyped patterns of behavior
(ii) Compulsive behavior by placing well and cleaning up his stuff
(iii) Repetitive behavior to remove dirt from under his nails when talking or listening to others
(iv) Compulsively cleaning drops that fall to the floor after showering
PPVT-III score:
(i) IQ = 55
(ii) mental age equivalency = 3 years
Leiter-R scores:
(i) fluid reasoning scale: IQ = 48
(ii) spatial visual scale: IQ = 51
DSM-IV: autistic disorder with moderate mental retardation

TWX(i) Parents/subject interview
(ii) WAIS
(iii) ADI-R
(iv) ADOS
(i) No echolalia in language
(ii) Good level of language that allows good communication skills
(iii) Grammatical mistakes that sometimes require clarifications of their explanations
(iv) Intonation is rather drab and accompanies his explanations by some stereotype words
(v) Conversation with him is hardly mutual, providing information spontaneously but showing little interest in the interlocutor
(vi) Nonverbal communication level is adequate, so their explanations are accompanied by gestures appropriately varied and integrated
(i) Social and responsible with their obligations
(ii) Sympathetic to the people closest to him
(iii) Poorly identifying his own difficulties and how these will interfere in his relations
(iv) Eye contact is seen but rather intermittent
(v) Facial expressions conveying emotions, some difficulty in identifying and describing by himself.
(i) No repetitive behavior observedWAIS scores:
(i) verbal IQ = 61
(ii) performance IQ = 82
(iii) full scale IQ = 69
DSM-IV: pervasive developmental disorder, not otherwise specified

Range of normal scores = 80–120; average score population = 100.
PPVT-III: Peabody Picture Vocabulary Test. Leiter-R: Leiter International Performance Scale-Revised. ADI-R: Autism Diagnostic Interview-Revised. DSM-IV: Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition. WAIS: Wechsler Adult Intelligence Scale. ADOS: Autism Diagnostic Observation Schedule.