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RESTRICTED DEVELOPMENTAL ABNORMALITIES
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A considerable portion of neuropediatric practice is committed to the diagnosis and management of children with learning disabilities These problems usually come to light in the school-age child (hence the term school dysfunction), whose aptitude for classroom learning is thought to be inferior to his general intelligence The medical referral may be from a parent, teacher, or psychologist The clinician s objective is to determine by history and examination whether there is (1) a general congenital developmental abnormality impairing intelligence; or (2) a speci c de cit in reading, writing, arithmetic, or attention, any one of which may interfere with the child s ability to learn; or (3) neither of these for example, a behavior disorder or home situation that interferes with schooling; or (4) a primary sensory defect, particularly in audition Once diagnosis is achieved, the goal of management, undertaken in collaboration with psychologists and educators, is to fashion a program of remedial exercises that will maximize the child s skills to a point commensurate with his talent and aptitude, and restore his self-con dence (see Rosenberger)
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Delays in Sensory Development
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Failure to see and to hear are the most important sensory defects affecting the infant and child When both senses are affected, a severe cerebral defect is usually responsible; only at a later age, when the child is more testable, does it become apparent that the trouble is not with the peripheral sensory apparatus but with the central integrating mechanisms of the brain Failure of development of visual function is usually revealed by a disorder of ocular movements Any defect of the refractive apparatus or the acuity of the central visual pathways results in wandering, jerky movements of the eyes The optic discs may be atrophic in such cases, but it should be pointed out that the discs in infants tend naturally to be paler than those of an older child In congenital hypoplasia of the optic nerves, the nerve heads are extremely small Defects in the retina and choroid are detectable by
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Disorders in the Development of Speech and Language
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In the pediatric age period and extending into adult life, one encounters an interesting assortment of developmental disorders of speech and language Many patients with such disorders come from families in which similar speech defects, ambidexterity, and lefthandedness are also frequent Males predominate; in some series, male-to-female ratios as high as 10:1 have been reported Developmental disorders of speech and language are far more frequent than acquired disorders, ie, aphasia The former include developmental speech delay, congenital deafness with speech delay, developmental word deafness, dyslexia (special reading disability), cluttered speech, infantilisms of speech, and stuttering or stammering, and mechanical disorders such as cleft-palate speech Often in these disorders, the various stages of language develop-
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NORMAL DEVELOPMENT OF THE NERVOUS SYSTEM
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ment described earlier are not attained at the usual age and may not be achieved even by adulthood Disorders of this type, restricted to the language areas of the cerebrum, are far more frequently due to slowness in the normal processes of maturation than to an acquired disease With the possible exception of developmental dyslexia (see further on), cerebral lesions have not been described in these cases, though it must be emphasized that only a small number of brains of such individuals become available for study and of these only a few have been thoroughly studied by proper methods In discussing the developmental disorders of speech and language, we have adopted a conventional classi cation Not usually included in such a classi cation are the many mundane peculiarities of speech and language that are usually accepted without comment lack of uency, inability to speak uninterruptedly in complete sentences, and lack of proper intonation, in ection, and melody of speech (dysprosody) Developmental Speech Delay Fully two-thirds of children say their rst words between 9 and 12 months of age and their rst word combinations before their second birthday; when this does not happen, it becomes a matter of parental concern Children who fail to reach these milestones at the stated times fall into two general categories In one group there is no clear evidence of mental retardation or impairment of neurologic or auditory function In a second group, the speech delay has an overt pathologic basis The rst group, comprising otherwise normal children who talk late, is the more puzzling It is virtually impossible to predict whether such a child s speech will eventually be normal in all respects and just when this will occur Prelanguage speech continues into the period when words and phrases should normally be used in propositional speech The combinations of sounds are close to the standard of normal vowel-consonant combinations of the 1- to 2-year-old, and they may be strung together as if forming sentences Yet, as time passes, the child may utter only a few understandable words, even by the third or fourth year Three out of four such patients will be boys and often one discovers a family history of delayed speech When the child nally begins to talk, he may skip the early stages of spoken language and progress rapidly to speak in full sentences and to develop uent speech and language in weeks or months During the period of speech delay, the understanding of words and general intelligence develop normally, and communication by gestures may be remarkably facile In such children, motor speech delay does not presage mental backwardness (It is said that Albert Einstein did not speak until the age of 4 and lacked uency at age 9) Nevertheless, the eventual acquisition of uent speech is no guarantee of normality (Rutter and Martin) Many such children do have later educational dif culties, mainly because of dyslexia and dysgraphia, a combination that is sometimes inherited as an autosomal dominant trait again, more frequently in boys (see further on) In a smaller subgroup, articulation remains infantile and the content of speech is impoverished semantically and syntactically Yet others, as they begin to speak, express themselves uently, but with distortions, omissions, and cluttering of words, but such patients usually recover A second broad group of children with speech delay or retarded speech development (no words by 18 months, no phrases by 30 months) comprises those in whom an overt pathologic basis is evident In clinics where children of the latter type are studied systematically, 35 to 50 percent of cases occur in those with mental
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retardation or cerebral palsy Hearing de cit explains many of the other cases, as discussed below, and a few represent what appears to be a lack of maturation of the motor speech areas or an acquired lesion in these parts Only in this small latter group is it appropriate to refer to the language disorder as aphasia ie, a derangement or loss of language due to a cerebral lesion Aphasia, when it occurs as the result of an acquired lesion (vascular, traumatic), is essentially of the motor variety and typically lasts but a few months in the child It may be accompanied by a right-sided hemiplegia An interesting type of acquired aphasia, possibly encephalitic, has been described by Landau and Kleffner in association with seizures and bitemporal focal discharges in the EEG (see page 289) Congenital Deafness Speech delay due to congenital deafness, whether peripheral (loss of pure-tone acuity) or central (pure-tone threshold normal by audiogram), is a most important condition but may at rst be dif cult to discern One suspects that faulty hearing is causal when there is a history of familial deaf mutism, congenital rubella, erythroblastosis fetalis, meningitis, chronic bilateral ear infections, or the administration of ototoxic drugs to the pregnant mother or newborn infant the well-known antecedents of deafness It is estimated that approximately 3 million American children have hearing defects; 01 percent of the school population are deaf and 15 percent are hard of hearing The parents attention may be drawn to a defect in hearing when the infant fails to heed loud noises, to turn the eyes to sound sources outside the immediate visual elds, and to react to music; but in other instances it is the delay in speaking that calls attention to it The deaf child makes the transition from crying to cooing and babbling at the usual age of 3 to 5 months After the sixth month, however, the child becomes much quieter, and the usual repertoire of babbling sounds becomes stereotyped and unchanging, though still uttered with pleasant voice A more conspicuous failure comes somewhat later, when babbling fails to give way to word formation Should deafness develop within the rst few years of life, the child gradually loses such speech as had been acquired but can be retaught by the lipreading method Speech, however, is harsh, poorly modulated, and unpleasant and accompanied by many peculiar squeals and snorting or grunting noises Social and other acquisitions appear at the expected times in the congenitally deaf child, unlike the mentally retarded child The deaf child seems eager to communicate and makes known all his needs by gesture or pantomime often very cleverly The deaf child may attract attention by vivid facial expressions, motions of the lips, nodding, or head shaking The Leiter performance scale, which makes no use of sounds, will show that intelligence is normal Deafness can be demonstrated at an early age by careful observation of the child s responses to sounds and by free- eld audiometry, but the full range of hearing cannot be accurately tested before the age of 3 or 4 years Recording of auditory-evoked brainstem potentials and testing of the labyrinths, which are frequently unresponsive in deaf mutes, may be helpful Early diagnosis is important in order to t the child with a hearing aid, if possible, and to begin appropriate language training In contrast to the child in whom deafness is the only abnormality, the mentally retarded child generally talks little but may display a rich personality Autistic children may also be mute; if they speak, echolalia is prominent and the personal I is avoided Blind children of normal intelligence tend to speak slowly and fail to acquire imitative gestures
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